ABL1 S972L - 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:

ABL1 S972L

(ABL1 Ser972Leu)


You are viewing the latest version of this page, saved on November 29, 2012 at 7:18am by Genome Importing Robot.

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 @ chr9:133760592: 2.9% (316/10746) in EVS
  • Frequency shown in summary reports: 2.9% (316/10746)

Publications
 

Genomes
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr9:133760592

 

Added in this revision:

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr9:133760592

 

Other external references
 

    dbSNP
  • rs2229067
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (26 hits -- see all)
  • ABL1 Gene - GeneCards | ABL1 Protein | ABL1 Antibody
    EntrezGene summary for ABL1: The ABL1 protooncogene encodes a cytoplasmic and nuclear ... CDC2-mediated phosphorylation, suggesting a cell cycle function for ABL1. ...
    genecards.org/cgi-bin/carddisp.pl?...&id_type=hgnc&search=76
  • Tyrosine-protein kinase ABL1 - Homo sapiens (Human)
    Tyrosine-protein kinase ABL1. EC=2.7.10.2. Alternative name(s): Abelson murine leukemia ... phosphorylation on Thr-735 and, sequesters ABL1 into the cytoplasm. ...
    www.uniprot.org/uniprot/P00519
  • Mooney Lab - MutDB
    ABL1. Number of Transcript Variants. 1. Visualize Pathways. Using web services (slow) ... DBSNP:rs2229067. 971. S L. NCBI. In dbsnp. None. Not scored. SWISS: ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=ABL1&geneid=25
  • Type I- 95%
    ... MYCBPAP Q8TBZ2 S910R 910 VAR_035005 IKK (0.685) Polymorphism (dbSNP:rs1133818) ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Type I- 97%
    ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 S232T 232 ... CK1 (0.632) Con1-, abolishes the glycosylation site at position 238 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt
  • ABL1 Gene - GeneCards | ABL1 Protein | ABL1 Antibody
    The ABL1 protooncogene encodes a cytoplasmic and nuclear protein ... ABL1 Gene in genomic location: bands according to Ensembl, locations according ...
    genecards.ims.u-tokyo.ac.jp/cgi-bin/carddisp.pl?gene=ABL1
  • GPM - protein model: ENSP00000323315
    Proto-oncogene tyrosine-protein kinase ABL1 variant Fragment [view all locations] ... ABL1 Isoform IA of Proto-oncogene tyrosine-protein kinase ABL1 [view ...
    gpmdb.thegpm.org/thegpm-cgi/protein.pl?npep=0&...
  • GPM - protein model: ENSP00000361423
    Gene_Symbol=ABL1 Isoform IB of Proto-oncogene tyrosine-protein kinase ABL1 [view all ... Gene_Symbol=ABL1 Bcr-abl1 e19a2 chimeric protein [view all locations] ...
    gpmdb.thegpm.org/thegpm-cgi/protein.pl?npep=0&...
  • UniProt/SWISS-PROT: ABL1_HUMAN
    ... requires phosphorylation on Thr- CC 735 and, sequesters ABL1 into the cytoplasm. ... CC -!- DISEASE: A chromosomal aberration involving ABL1 is a cause of CC chronic ...
    www.genome.jp/dbget-bin/www_bget?sp:ABL1_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in