Overview

Variant ID 12693
Entrez Gene ID 4481
Gene MSR1 (GeneCards)
Location hg19 8:16557975-16557975
hg38 8:16700466-16700466
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000008.10:g.16557975 T>A (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 146364022

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.1073
CADD Raw score (version 1.3) 0.257767 (Deleterious)
FATHMM raw prediction score 0.15886 (Tolerated)
Deleterious probability by DeFine 0.3702 (Neutral)
Entrez Gene ID 4481 (NCBI Gene)
Official Gene Symbol MSR1 (GeneCards)
Number of variants in MSR1 in this database 13 (view all the variants)
Full name macrophage scavenger receptor 1
Band 8p22
Other IDs Vega: OTTHUMG00000094809
OMIM: 153622
HGNC: HGNC:7376
Ensembl: ENSG00000038945
Other names SRA, SR-A, CD204, SR-AI, phSR1, phSR2, SCARA1, SR-AII, SR-AIII
Summary This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 29217584.19 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Female Patient  
Phenotype 3  
Disease Cockayne syndrome (view all the variants in this disease)
OMIM ID 216400

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;