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COL3A1 variants

Abstract Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe autosomal dominant disorder caused by variants at the COL3A1 gene. Clinical characteristics and course of disease of 215 molecularly proven patients (146 index cases and 69 relatives) were analysed List of variants in gene COL3A1 reported as pathogenic for Ehlers-Danlos syndrome, type 4 - ClinVar Miner List of variants in gene COL3A1 reported as pathogenic for Ehlers-Danlos syndrome, type 4 Total variants: 460 Download table as spreadshee All variants in the COL3A1 gene Ehlers Danlos Syndrome Variant Database The variants shown are described using the NM_000090.3 transcript reference sequence. 1405 entries on 15 pages

The Type of Variants at the COL3A1 Gene Associates With

  1. ant disorder caused by variants at the COL3A1 gene. Clinical characteristics and course of disease of 215 molecularly..
  2. Our study shows that a variant of COL3A1 (rs3134646) is associated with the risk of developing colonic diverticulosis in white men, whereas rs1800255 (COL3A1) and rs1800012 (COL1A1) were not associated with this condition after adjusting for confounding factors. Our data provide novel valuable insig
  3. Listing of all COL3A1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect) Download table. Download the full sequence variant table of the COL3A1 database in tab-delimited text format. Search the database. By type of variant

List of variants in gene COL3A1 reported as pathogenic for

  1. Pathogenic COL3A1 variants are associated with 90%-95% of clinical cases of Ehlers-Danlos syndrome (EDS) (type 4) vascular. Gene function The COL3A1 gene encodes pro-alpha1 chain of type III collagen, a major structural component of the extracellular matrix in a variety of internal organs and skin ( PMID : 22143279)
  2. Patients with vEDS typically have a heterozygous mutation in the COL3A1 gene, with the rare exception of specific heterozygous arginine-to-cysteine substitution mutations in COL1A1 that are also associated with vascular fragility and mimic COL3A1-vEDS. In very rare instances, biallelic pathogenic variants in COL3A1 may be identified
  3. ant disorder caused by variants at the COL3A1 gene. Clinical characteristics and course of disease of 215 molecularly proven patients (146 index cases and 69 relatives) were analysed
  4. Formally, the monomers are called collagen type III, alpha-1 chain and in humans are encoded by the COL3A1 gene. Type III collagen is one of the fibrillar collagens whose proteins have a long, inflexible, triple-helical domain

All variants in the COL3A1 gene - Global Variome shared LOV

  1. February 08, 2021. Version. COL3A1:210208. Graphical displays and utilities. Graphs. Graphs displaying summary information of all variants in the database ». Reading frame checker. The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000090.3
  2. The components of type III collagen, called pro-α1 (III) chains, are produced from the COL3A1 gene. Each molecule of type III procollagen is made up of three copies of this chain. The triple-stranded, rope-like procollagen molecules are processed by enzymes outside the cell to create mature type III collagen
  3. Variant summary: The COL3A1 c.3133G>A (p.Ala1045Thr) variant involves the alteration of a non-conserved nucleotide and 3/4 in silico tools (SNPsandGO not captured due to low reliability index) predict a damaging outcome. However, these predictions have yet to be functionally assessed. This variant was found in 71/121484 control chromosomes at a.
  4. The Comprehensive EDS Panel includes testing for 15 genes associated with Ehlers-Danlos Syndrome, including the recently described Periodontal form of EDS (EDS type VIII). Panel genes: COL5A1, COL5A2, COL3A1, FLNA, PLOD1, COL1A1, COL1A2, ADAMTS2, C1S, C1R, ATP7A, CHST14, FKPB14, SLC39A13, and AEBP1. Similar to EDS type I but less severe

After population structure and genetic relationship and ancestry analyses, we used the optimal sequence kernel association test to identify the candidate genes or variants of STAD. We found that COL3A1 was significantly relevant to STAD (P = 7.35 × 10 −6) after 10 000 times permutation test (P = 2.49 × 10 −3) Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1. We identified biallelic COL3A1 variants in two unrelated families. In a 3‐year‐old female with developmental delay the nonsense variant c.1282C>T, p. (Arg428*) was detected in combination the c.2057delC, p

The type of variants at the COL3A1 gene associates with

A Variant of COL3A1 (rs3134646) Is Associated With Risk of

Pathogenic variants in the COL3A1 gene are passed through a family in an autosomal dominant pattern, meaning that anyone who carries the variant has a 50% chance to pass it down to any children they have. Women and men both have the COL3A1 gene and have the same chances to inherit and pass down pathogenic variants This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less Of the remaining three sequence variants present only in the Tsk2/+ mice, two were in introns, and one was a missense variant in Col3a1 that converted a cysteine to a serine in the N-terminal propeptide. This Cys-to-Ser change mutates one of the cysteine residues that are normally part of intrachain disulphide bonds

COL3A1 homepage - Ehlers Danlos Syndrome Variant Database

  1. Vascular EDS is estimated to occur between 1 in 50,000 individuals to 1 in 200,000 and results from pathogenic variants in COL3A1, which is responsible for producing chains of type III procollagen, a major protein in the walls of blood vessels and hollow organs
  2. Sequence variants and/or copy number variants (deletions/duplications) within the COL3A1 gene will be detected with >99% sensitivity. Variants classified as unknown significance (VUS), likely pathogenic, or pathogenic will be reported. Benign and lik..
  3. DB-ID: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen.
  4. The COL3A1 mutation data have been added to a new database. About this overview ; This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold..
  5. MyGene2 connects families with rare conditions, clinicians, and researchers who are interested in publicly sharing health and genetic information with one another
  6. I have a variant in a different gene (not related to EDS but from an arrhythmia panel) also not reported in any data base. My genetics doctor told me to give it time and as more and more people get tested there will likely be others with the same variant and that will lead to more information about it being discovered 路 ‍♀️ It's frustrating being in the unsure category

Gene COL3A

Objective. Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. The syndrome results in aortic and arterial aneurysms and dissections at a young age. Diagnosis is confirmed with molecular testing via skin biopsy or genetic testing for COL3A1 pathogenic variants. We describe a multi-institutional experience in the. The target variants of COL3A1 were selected as previously described (Chen et al. 2012). The two tag single-nucleotide polymorphisms (SNPs) rs2138533 and rs11887092 are located in the promoter region of COL3A1. The variant rs1800255 is located in the coding region, resulting in an amino acid substitution, Ala to Thr, at 698 The proband and his sister each had two COL3A1 sequence variants, c.1786C>T, p.(Arg596*) in exon 26 and c.3851G>A, p.(Gly1284Glu) in exon 50 on different alleles. Cells from the compound. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency of non pathogenic variant reported listed as number of variant alleles/number of control alleles tested, like 5/132. COL3A1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided

This test includes next-generation sequencing (NGS) and supplemental Sanger sequencing to evaluate for variants in the ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, and TGFBR2 genes. Additionally, NGS is used to test for the presence of large deletions and duplications in a subset of genes Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. The syndrome results in aortic and arterial aneurysms and dissections at a young age. Diagnosis is confirmed with molecular testing via skin biopsy or genetic testing for COL3A1 pathogenic variants. We describe a multi-institutional experience in the diagnosis.

Unique variants in gene COL3A1. The variants shown are described using the NM_000090.3 transcript reference sequence. Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column Abnormalities in type III collagen in the arterial walls cause certain familial intracranial aneurysms (IAs); however, it remains unknown whether COL3A1 variants contribute to the risk of sporadic IAs. To study whether COL3A1 variants are associated with sporadic IAs, the association of COL3A1 variants with sporadic IAs was tested in 298 cases and 488 controls, replicated in an independent. Results Exome analysis revealed a novel homozygous variant c.145C>G (p.Pro49Ala) in exon 2 of COL3A1 . Brain MRI in the affected siblings as well as in the two previously reported individuals with bi-allelic COL3A1 mutations showed a brain phenotype similar to that associated with mutations in GPR56 Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited autosomal dominant disorder caused by COL3A1 pathogenic variants. A high percentage of de novo cases has been suggested. Part of it.

COL3A1 Gene - GeneCards | CO3A1 Protein | CO3A1 Antibody

EDS Types The Ehlers Danlos Society : The Ehlers Danlos

The three different Glu>Lys variants point toward a new variant type in COL3A1 causative of vEDS, which has consistent clinical features. This is important knowledge for COL3A1 variant interpretation. Further follow-up data are required to establish the severity of tissue fragility complications compared with patients with other recognized. Objective. Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder owing to pathogenic variants in COL3A1 that lead to impaired type III collagen production. We aim to describe the contemporary multi-institutional experience of aortic and arterial pathology in individuals with vEDS, to evaluate disease patterns and refine management recommendations Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1.We identified biallelic COL3A1 variants in two unrelated families. In a 3‐year‐old female with developmental delay the nonsense variant c.1282C>T, p.(Arg428*) was detected in combination the c.2057delC, p.(Pro686Leufs*105) frame shift variant

COL3A1 - Explore an overview of COL3A1, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug resistance data The variant is located in a von Willebrand factor C domain that may mediate interaction with GPR56 in the N terminus of the pro-COL3A1 chain; this region is usually cleaved from the intact type III collagen domain. Patient fibroblasts showed increased levels of COL3A1 mRNA, but normal amounts of the COL3A1 protein Eight variants in five genes (ATM, BRCA1, BRCA2, COL3A1, and COL5A1) were designated with the increased risk classification in DTC raw data or by a third-party interpretation service RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations 10 20 30 40 100 All Rows Additional References at PubMe

Novel Insights. The authors present a family affected by vEDS and a novel COL3A1 pathogenic variant that has not been defined before.. Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disease that causes arterial dissection, pneumothorax, and intestinal and uterine rupture due to decreased production of type III procollagen There were significant interactions between COL3A1-1 and -3 variants and treatment. Allele COL3A1-3 was associated with an increased risk of the composite end point (RR = 1.65, 95% CI = 1.07-2.55) in patients randomized to orbofiban, but appeared protective in placebo patients (RR = 0.53, 95% CI = 0.28-0.98) Vascular Ehlers-Danlos Syndrome (vEDS), also known as EDS type IV, is considered to be an autosomal dominant disorder caused by sequence variants in COL3A1, which encodes the chains of type III procollagen.We identified a family in which there was marked clinical variation with the earliest death due to extensive aortic dissection at age 15 years and other family members in their eighties. Our laboratory is therefore well-positioned to re-classify previously reported variants as new information becomes available. If a variant previously reported by Blueprint Genetics is re-classified, our laboratory will issue a follow-up statement to the original ordering health care provider at no additional cost. Order COL3A1 single gene test Considering the importance of type III collagen in POP , other groups have searched for correlations of this disease with COL3A1 variants. Two studies [18, 19] evaluated an SNP located in exon 31. In those papers, this polymorphism is described as a G/A variant disrupting an AluI restriction site, exactly as rs1800255. On the other hand.

  1. ant manner. Pathogenic COL1A2 and COL12A1 variants may also exhibit autosomal recessive inheritance. EDS or EDS-like clinical features due to ADAMTS2, FKBP14, PLOD1, and SLC39A13 are inherited in an autosomal recessive manner
  2. Variants in COL5A1 and COL5A2 are associated with classical EDS (cEDS). 9, while variants in COL3A1 are associated with vascular EDS (vEDS). 10 Variants in COL1A1 are primarily seen in arthrochalasia EDS (aEDS) but are also rarely causative of vEDS and cEDS. 11 A propensity to bleeding diathesis is a common symptom in most EDS subtypes. 8 The.
  3. g a vEDS diagnosis

Collagen, type III, alpha 1 - Wikipedi

Objective: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder owing to pathogenic variants in COL3A1 that lead to impaired type III collagen production. We aim to describe the contemporary multi-institutional experience of aortic and arterial pathology in individuals with vEDS, to evaluate disease patterns and refine. Identification of COL3A1 variants associated with sporadic thoracic aortic dissection: a case-control study Published in: Frontiers of Medicine, May 2021 DOI: 10.1007/s11684-020-0826-1: Pubmed ID: 34047934. Authors COL3A1 (Collagen Type III Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL3A1 include Ehlers-Danlos Syndrome, Vascular Type and Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome.Among its related pathways are ERK Signaling and Collagen chain trimerization.Gene Ontology (GO) annotations related to this gene include integrin binding and SMAD binding Recontact process. Twenty-six participants (26/240) were found to have pathogenic variants with twenty-four different variants in 6 genes (COL3A1, FBN1, LOX, PRKG1, SMAD3, and TGFBR2).Additional information about the classification of these variants, including mutation types, is found in Table 1 of Wolford, Hornsby et al. [].Of 26 participants with pathogenic variants, three participants were.

Vascular Ehlers-Danlos syndrome is typically caused by a change (mutation) in the COL3A1 gene.Rarely, it may be caused by a mutation in the COL1A1 gene. The COL3A1 gene provides instructions for making a component of type III collagen. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Type III collagen, specifically, is found in tissues such. Variants in the MYLK gene have been reported in a small subset of families with familial TAAD. TGFB2 variants have also been reported in families with TAAD and systemic features that overlap with LDS and MFS. The COL3A1 gene causes Ehlers Danlos syndrome type IV (vascular type), an autosomal dominant connectiv Pathogenic variants in COL3A1, most frequently glycine substitutions, with glutamic acid to lysine substitutions (Glu>Lys) in COL3A1, also were delineated. A novel point mutation has been found in the vascular type of Ehlers-Danlos syndrome. The mutation occurs in the second position of exon 24 of COL3A1. [5, 15

The COL3A1 gene homepage - Global Variome shared LOV

COL3A1 gene: MedlinePlus Genetic

CONCLUSIONS: Our study shows that a variant of COL3A1 (rs3134646) is associated with the risk of developing colonic diverticulosis in white men, whereas rs1800255 (COL3A1) and rs1800012 (COL1A1) were not associated with this condition after adjusting for confounding factor Genetics of vascular Ehlers-Danlos syndrome (vEDS) : Part 1 - Pathogenic variants in COL3A1 by Dr.Ingrid van de laar, Clinical geneticist, Erasmus Medical Ce.. Test description. This test is a comprehensive analysis of genes associated with inherited aortopathy and related conditions. The Invitae Aortopathy Comprehensive Panel includes genes that are associated with isolated thoracic aortic aneurysms and dissections (TAAD) and multi-system disorders that may have aortopathy as one feature.Given the clinical overlap between different aortopathy. Aortic dissection (AD) usually remains undiagnosed, but its manifestation is abrupt and is associated with high morbidity and poor prognosis, leading to sudden cardiac death. Variants in COL family genes are associated with AD. In case 1, a 32-year-old Chinese man was admitted to the hospital with complaints of abdominal pain and died on the next day. In case 2, a 36-year-old Chinese woman was.

VCV000197477.6 - ClinVar - NCB

The proband and his sister each had two COL3A1 sequence variants, c.1786C>T, p.(Arg596*) in exon 26 and c.3851G>A, p.(Gly1284Glu) in exon 50 on different alleles. Cells from the compound heterozygote produced a reduced amount of type III procollagen, all the chains of which had abnormal electrophoretic mobility.. col3a1. mouse on a . 77. C57BL/6J background, using bacterial artificial chromosome (BAC) and recombinant technology (for details, see Material and Methods, Supplemental Figure 178 and Supplemental Table 1). We chose the . 79. most common type of . COL3A1. disease-causing genetic variant, i.e. a glycine substitution within the . 80. triple heli In vEDS due to COL3A1 pathogenic variants, the major defect structurally is abnormal fibrillogenesis involving altered incorporation of collagen type 1. 57 A similar mechanism may be hypothesized for the COL5A1 G514S variant, as this is also a fibrillar collagen

Core Ehlers-Danlos Syndrome Panel Genes COL3A1, COL5A1, COL5A

Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder with different presentations that have been classified into several primary types. EDS is caused by a defect in the structure, production, or processing of collagen or proteins that interact with collagen, such as mutations in the COL5A or COL3A genes Genetics of vascular Ehlers-Danlos syndrome (vEDS): Part 2 - Pathogenic variants in COL3A1: dominant negative effect by Dr. Ingrid van de Laar, Clinical gene.. Individuals with a COL3A1 null variant have a 15-year delay in onset of complications, improved life expectancy, and significantly fewer obstetric and bowel complications than are seen with other types of COL3A1 pathogenic variants. The phenotype in these individuals appears primarily limited to vascular events, and the penetrance reduced identification of pathogenic variants in COL3A1 to allow for appropriate surveillance,treatment,andfamilystud-ies. Type III collagen is a major protein in the walls of blood vessels and hollow organs, which explains increased bruis-ing, arterial and bowel fragility, and uterine, cervical and vaginal fragility during pregnancy and delivery. Muta COL3A1. This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and.

The International Ehlers-Danlos Foundation Advisory Board set the following guidelines for determination of the clinical diagnosis of EDS type IV. DNA-based testing is recommended for those who meet these guidelines. Note, however, that individuals with nonsense mutations of COL3A1 are less likely to have similar physical characteristics The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown. Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences Since Richards et al initially described a variant of COL3A1 in EDS IV patients, 268 variants, including 66 intron variants and 204 exon variants , were identified in COL3A1. Of the exon variants, 159/204 variants led to the replacement of one glycine in the (Gly-Xaa-Yaa)n repeat of the collagen triple helix

Identification of COL3A1 variants associated with sporadic

Nineteen COL3A1 variants have previously been reported in these exons, of which four were associated with a severe vEDS phenotype. We identified two novel C‐propeptide missense variants; p.Pro1440Leu, p.Arg1432Leu, and a non‐stop mutation, c.4400A > T, p. (*1467Leuext*45) variants, that the COL3A1 rs1800255 GG and COL12A1 rs970547 AA genotypes are associated with improved endurance performance. The secondary objective was to investigate gene-gene interactions between COL3A1 rs1800255 and COL12A1 rs970547, and previously associated collagen genes where appropriate, and endurance perfor-mance Vascular Ehlers Danlos syndrome (vEDS) is the severe subtype of Ehlers-Danlos Syndrome, affecting 1 in 50,000 people worldwide and results from pathogenic variants in the COL3A1 gene, which encodes the chains of type III procollagen, a major protein in vessel walls and hollow organs COL3A1 pathogenic variants have been identified in approximately 95% of individuals with Ehlers-Danlos Syndrome (EDS) IV (Byers. 2019. PubMed ID: 20301667). PubMed ID: 20301667). COL5A1 or COL5A2 pathogenic variants have been identified in at least 50% of affected individuals with classic EDS (Malfait et al. 2018

Biallelic COL3A1 mutations result in a clinical spectrum

Risk Estimate: low likelihood of variants in the genes analyzed contributing to this individual's clinical history. Genetic counseling is a recommended option for all individuals undergoing genetic testing. Genes Analyzed: ACTA2, COL3A1, COL5A2, FBN1, FBN2, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3 Comment on publications: Numerous cases (more than 3 unrelated cases) to support vEDS is caused by a variant in COL3A1. PMID: 2243125, 11577371, 19455184, 21637106, 24922459. In relation to the EDS pathogenetic scheme, COL3A1 belongs to 'Disorders of collagen primary structure and collagen processing'. The scheme regroups EDS subtypes for which.

16 New Pills of Knowledge from the Medium-Sized ArteriesA Database of Osteogenesis Imperfecta and Ehlers Danlos

The variant is located in exon 41, the region encoding chains of the triple helical domain of type III procollagen , and two other missense variants in the same codon, Gly993Cys and Gly993Asp, have been reported to be pathogenic , indicating that this site is essential for the function of the COL3A1 gene. In addition, this variant was a de novo. Collagen III alpha 1, also referred to as collagen type III alpha 1 or COL3A1 for short, was first described in 1971 and is a member of the collagen superfamily and encoded COL3A1 gene (1, 2). In general, collagen III is an extracellular matrix protein that is synthesized as a preprocollagen followed by cleaving of the signal peptide to form. Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts. Laura Vandervore Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium Methodology. Next Generation Sequencing: Next generation DNA sequencing is performed to identify nucleotide variants in the coding portion of the genome.All nucleotides in the coding exons and their flanking splice junctions are sequenced to a read coverage of greater than 20X

Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts Posted on March 3, 2017 by hqqu Collagens are important constituents of connective tissue but are also present in the membrane lining the surface of the brain unique sequence variant is identified and to look for protein abnormalities in an individual with convincing phenotype but an apparently normal sequence of COL3A1. Rare small multiexonic deletions not detected by deletion/duplication analysis (e.g., MLPA) may be identified using cDNA sequencing. Molecular Genetic Testing Gene

Background The collagen 3 alpha 1 (COL3A1) rs1800255 polymorphism has been reported to be associated with women pelvic organ prolapse (POP) susceptibility, but the results of these previous studies have been contradictory. The objective of current study is to explore whether COL3A1 rs1800255 polymorphism confers risk to POP. Methods Relevant literatures were searched by searching databases.

Tissue expression of IGSF9 - Summary - The Human Protein Atlas

cited for: variants edsvasc cys-183; arg-201; glu-228; arg-540; arg-936; glu-996; val-1071; ala-1104; glu-1182; val-1185; glu-1188 and arg-1188; Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis The condition results from variants in the collagen type III, alpha 1 (COL3A1) gene, which is located on chromosome 2 at band q31 and encodes the alpha ()1 chain of procollagen type III. It is estimated that up to 98% of patients with a clinical diagnosis of EDS IV have a detectable variant in COL3A1, with the vast majority of these being. Exons 33, 37, and 38 are not evaluated by this test. In addition, copy number analysis is not available for regions spanning exon 32-34 and 36-44. Sequencing variants detected in exons 32, 34-36, and 39-44 will be confirmed by long-range PCR and Sanger sequencing as an alternative methodology COL3A1. Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12

PHB2 (prohibitin 2)OCA2 protein expression summary - The Human Protein Atlas