RP1 R872H - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

RP1 R872H

(RP1 Arg872His)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr8:55539057: 23.5% (2528/10738) in EVS
  • A @ chr8:55701609: 22.7% (29/128) in GET-Evidence
  • Frequency shown in summary reports: 23.5% (2528/10738)

Publications
 

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr8:55539057

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr8:55539057

 

 

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom A @ chr8:55539057

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr8:55539057

 

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr8:55701610

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr8:55701610

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr8:55701610

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr8:55701610

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr8:55701610

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr8:55701610

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr8:55701610

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr8:55701610

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr8:55701610

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr8:55701610

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr8:55701610

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr8:55701610

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr8:55701610

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr8:55701610

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr8:55701610

 

Other external references
 

    dbSNP
  • rs444772
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (12 hits -- see all)
  • HUGO HGM2006 - Poster 288 - Interaction of the RHO and RP1 ...
    Interaction of the RHO and RP1 genes in retinitis pigmentosa ... allele of the RP1-R872H (P < 0.0001, OR = 0.16) with the common alleles in the other 15 ...
    hgm2006.hugo-international.org/Abstracts/.../hgm288.html
  • Eye - Abstract of article: A novel missense RP1 mutation in ...
    Eye is the official journal of the Royal College of Ophthalmologists. It aims to provide the practising ophthalmologist with information on the latest ...
    www.nature.com/eye/journal/v20/n5/abs/6701944a.html
  • RP1 in Chinese: Eight Novel Variants and Evidence That ...
    To examine the role of RP1 mutations in RP, we screened 101 unrelated ... for sequence changes in the coding exons for the 2156 amino acid RP1 protein. ...
    interscience.wiley.com/homepages/38515/pdf/mutation/417.pdf
  • Genetic markers for retinitis pigmentosa
    RP1 sequence may be related to RP, seven definite. RP1 disease-causing ... exist only in the Chinese population. R872H might confer a protective ...
    hkam.org.hk/publications/hkmj/article_pdfs/hkm0508p281.pdf
  • 基因内含子突变与视网膜色素变性的研究进展_第2页_中国论文下载中心_医学论文_医药学论文
    发现:(1)RHO基因非编码区-26G>A的发生率在病例组中显著高于对照组,提示这个SNP与RP的危险性增加有关,而RP1基因中R872H则可降低RP的危险性。 ... 多因素Logistic回归分析揭示了RHO基因内含子区域IVS4-23G>A的突变分别与RP1基因N985Y和C2033Y两个位点之间存在相互作用。 ...
    www.studa.net/yixue/080405/1622337-2.html
  • A novel missense RP1 mutation in retinitis pigmentosa.
    RP1 was recently found to be a microtubule-associated protein (MAP) and responsible for ... R872H, a previously reported polymorphism, was predominantly present ...
    www.medscape.com/medline/abstract/15933747?prt=true
  • [Digenic association of RHO and RP1 genes with retinitis ...
    OBJECTIVE: To identify the mutation patterns of RHO and RP1 genes in the Chinese patients with retinitis pigmentosa (RP) and to explore their potential interactions ...
    www.medscape.com/medline/abstract/16185528
  • Lam, Sc (Shun-chiu)
    Two mutations in the RP1 gene, R677X and D984G, were identified each in one ... increase the risk of RP, while R872H in the RP1 gene was likely to be a ...
    lib.bioinfo.pl/auid:1612690
  • PolyPhen: results for P56715 R872H
    OXYGEN-REGULATED PROTEIN 1 (RETINITIS PIGMENTOSA RP1 PROTEIN) LENGTH: 2156 AA ... This variant is predicted to be unknown (no data for prediction) ...
    tux.embl-heidelberg.de/ramensky/data/html/SNP000316348.html
  • 基因内含子突变与视网膜色素变性的研究进展无忧论文网-免费硕士博士论文
    发现:(1)RHO基因非编码区-26G>A的发生率在病例组中显著高于对照组,提示这个SNP与RP的危险性增加有关,而RP1基因中R872H则可降低RP的危险性。 ... 多因素Logistic回归分析揭示了RHO基因内含子区域IVS4-23G>A的突变分别与RP1基因N985Y和C2033Y两个位点之间存在相互作用。 ...
    www.wypaper.com/lunwen/yxlww/084221529J_4.html

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in