SRMS V255M - GET-Evidence

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

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Curation:
Currentness:

SRMS V255M

(SRMS Val255Met)


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

  • T @ chr20:62173817: 4.4% (471/10742) in EVS
  • T @ chr20:61644260: 4.0% (5/124) in GET-Evidence
  • Frequency shown in summary reports: 4.4% (471/10742)

Publications
 

Genomes
 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr20:62173817

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr20:62173817

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr20:61644261

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr20:61644261

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr20:61644261

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr20:61644261

 

Other external references
 

    dbSNP
  • rs34969822
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.993 (probably damaging)
    Web search results (5 hits -- see all)
  • SRMS Gene - GeneCards | SRMS Protein | SRMS Antibody
    SRMS Gene in genomic location: bands according to Ensembl, locations according to (and/or ... Monoclonal and Polyclonal Antibodies from Abnova (SRMS) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=SRMS
  • Tyrosine-protein kinase Srms - Homo sapiens (Human)
    ... SRMS_HUMAN Tyrosine-protein kinase Srms OS=Homo sapiens GN=SRMS PE=2 SV=1 ... kinase Srms. EC=2.7.10.2. Gene names. Name: SRMS. Synonyms: C20orf148 ...
    www.uniprot.org/uniprot/Q9H3Y6
  • Thermal Mass: Topics by WorldWideScience.org
    Use of thermal desorption gas chromatography-olfactometry/mass spectrometry for ... identified and unidentified odor active compounds emitted from building products ...
    worldwidescience.org/topicpages/t/Thermal+Mass.html
  • UniProt: Q9H3Y6
    AC Q9H3Y6; DT 17-JAN-2003, integrated into UniProtKB/Swiss-Prot. DT ... protein kinase Srms; DE EC=2.7.10.2; GN Name=SRMS; Synonyms=C20orf148; OS Homo sapiens ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q9H3Y6

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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