IthaID: 2925
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs186996510 | HGVS Name: | NG_015865.1:g.8168C>G |
Context nucleotide sequence:
GGCTCGGCCCGCCGGGCCCGCCGCT [C/G] TCATTGGCCATGGCGGCGGCGGCGG (Strand: +)
Protein sequence:
MANESGGPGGPSPSERDRQYCELCGKMENLLRCSRCRSSFYCCKEHQRQDWKKHKLVCQGSEGALGHGVGPHQHSGPAPPAAVPPPRAGAREPRKAAARRDNASGDAAKGKVKAKPPADPAAAASPCRAAAGGQGSAVAAEAEPGKEEPPARSSLFQEKANLYPPSNTPGDALSPGGGLRPNGQTKPLPALKLALEYIVPCMNKHGICVVDDFLGKETGQQIGDEVRALHDTGKFTDGQLVSQKSDSSKDIRGDKITWIEGKEPGCETIGLLMSSMDDLIRHCNGKLGSYKINGRTKAMVACYPGNGTGYVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARAKVKYLTGEKGVRVELNKPSDSVGKDVF
Also known as: 12C>G
Comments: SNP showed nominally significant association with haemoglobin levels in Tibetans living at high altitudes.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Anaemia [HP:0001903] |
Location
| Chromosome: | 1 |
|---|---|
| Locus: | NG_015865.1 |
| Locus Location: | 8168 |
| Size: | 1 bp |
| Located at: | EGLN1 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Tibetan |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Xiang K, Ouzhuluobu , Peng Y, Yang Z, Zhang X, Cui C, Zhang H, Li M, Zhang Y, Bianba , Gonggalanzi , Basang , Ciwangsangbu , Wu T, Chen H, Shi H, Qi X, Su B, Identification of a Tibetan-specific mutation in the hypoxic gene EGLN1 and its contribution to high-altitude adaptation., Mol. Biol. Evol. , 30(8), 1889-98, 2013
- Lorenzo FR, Huff C, Myllymäki M, Olenchock B, Swierczek S, Tashi T, Gordeuk V, Wuren T, Ri-Li G, McClain DA, Khan TM, Koul PA, Guchhait P, Salama ME, Xing J, Semenza GL, Liberzon E, Wilson A, Simonson TS, Jorde LB, Kaelin WG, Koivunen P, Prchal JT, A genetic mechanism for Tibetan high-altitude adaptation., Nat. Genet. , 46(9), 951-6, 2014