Collagen, Type I, Alpha-1

Alternative Names

COL1A1
Collagen of Skin, Tendon, and Bone, Alpha-1 Chain

Length

17,554 bases

No. of Exons

No. of isoforms

Protein Name

Collagen alpha-1(I) chain

Molecular Mass

138941 Da

Amino Acid Count

1464

Genomic Location

chr17:50,184,095-50,201,648

Gene Map Locus

17q21.33

Description

COL1A1 gene encodes pro-alpha1 chains of type I collagen. Type I collagen is the most abundant and widely expressed collagen in humans, found in most connective tissues, especially in bone, cornea, dermis, and tendon. It is a heterotrimer comprising two alpha 1 chains and one alpha 2 chain.

Mutations in this gene are associated with a variety of conditions, including osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis.

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000088.4:c.1273G>A	Saudi Arabia	NC_000017.11:g.50195258C>T	Pathogenic	Likely Pathogenic	Osteogenesis Imperfecta, Type I	NG_007400.1:g.11382G>A; NM_000088.4:c.1273G>A; NP_000079.2:p.Gly425Ser	72648330	647159
NM_000088.4:c.1426G>A	Saudi Arabia	NC_000017.11:g.50194756C>T	Pathogenic	Likely Pathogenic	Osteogenesis Imperfecta, Type II	NG_007400.1:g.11884G>A; NM_000088.4:c.1426G>A; NP_000079.2:p.Gly476Arg	57377812	2579137
NM_000088.4:c.2050G>A	Saudi Arabia	NC_000017.11:g.50191865C>T	Uncertain Significance	Likely Pathogenic, Uncertain Significance	COL1A1-related Ehlers-Danlos Syndrome-like Disorder, Autosomal Recessive	NG_007400.1:g.14775G>A; NM_000088.4:c.2050G>A; NP_000079.2:p.Glu684Lys	1432430042	1785070
NM_000088.4:c.2127+2T>A	Saudi Arabia	NC_000017.11:g.50191786A>T	Pathogenic	Pathogenic	Osteogenesis Imperfecta, Type I	NG_007400.1:g.14854T>A; NM_000088.4:c.2127+2T>A	72651644	574055
NM_000088.4:c.2299G>A	Egypt	NC_000017.11:g.50190861C>T	Pathogenic	Pathogenic	Osteogenesis Imperfecta, Type I	NG_007400.1:g.15779G>A; NM_000088.4:c.2299G>A; NP_000079.2:p.Gly767Ser	72651658	546096
NM_000088.4:c.2399G>A	Saudi Arabia	NC_000017.11:g.50190379C>T		Likely Pathogenic	Osteogenesis Imperfecta, Type II	NG_007400.1:g.16261G>A; NM_000088.4:c.2399G>A; NP_000079.2:p.Gly800Glu
NM_000088.4:c.299-2A>G	Saudi Arabia	NC_000017.11:g.50199592T>C		Pathogenic	Osteogenesis Imperfecta, Type I	NG_007400.1:g.7048A>G; NM_000088.4:c.299-2A>G
NM_000088.4:c.841G>A	Saudi Arabia	NC_000017.11:g.50196634C>T	Pathogenic	Likely Pathogenic	Osteogenesis Imperfecta, Type I	NG_007400.1:g.10006G>A; NM_000088.4:c.841G>A; NP_000079.2:p.Gly281Ser	72645334	425590

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Other Reports

Saudi Arabia

Linjawi et al, (2016) recruited 47 patients with scars and 37 healthy controls to evaluate the association of COL1A1 SNPs with scar formation. About 32 of the 47 patients had keloid scars, while the rest had hypertrophic scars. Genotyping study found that there was significant association between –1997 G/T (rs1107946) polymorphism in the COL1A1 gene and scar formation, especially in female participants. In addition, no association between +1245 G/T (rs1800012) polymorphism and scars was found. The authors suggested that GG haplotype was responsible for enhancing the transcriptional activity of the COL1A1 gene. Therefore, they suggested further investigations to explain the relationship between susceptibility to scars and COL1A1 gene expression.

External Links

https://medlineplus.gov/genetics/gene/col1a1/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=COL1A1

Contributors

Asha Deepthi: 07.08.2024
Asha Deepthi: 03.11.2021
Pratibha Nair: 25.01.2017
Ameera Balobaid: 26.11.2016

Edit History

Asha Deepthi: 10.10.2024
Asha Deepthi: 07.08.2024
Asha Deepthi: 03.11.2021
Pratibha Nair: 23.03.2017

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