ABCA4 S2255I - GET-Evidence

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

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Curation:
Currentness:

ABCA4 S2255I

(ABCA4 Ser2255Ile)


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 @ chr1:94461717: 19.0% (2046/10758) in EVS
  • A @ chr1:94234304: 13.7% (17/124) in GET-Evidence
  • Frequency shown in summary reports: 19.0% (2046/10758)

Publications
 

Genomes
 

 

 

 

 

 

 

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr1:94234305

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr1:94234305

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr1:94234305

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr1:94234305

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr1:94234305

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr1:94234305

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr1:94234305

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr1:94234305

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr1:94234305

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr1:94234305

 

GS19701 - var-GS19701-1100-36-ASM
hom A @ chr1:94234305

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr1:94234305

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr1:94234305

 

Other external references
 

    dbSNP
  • rs6666652
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the ABCA4 gene
    Age-related macular degeneration
    ABCA4-Related Retinitis Pigmentosa
    ABCA4-Related Stargardt Disease 1
    Age-Related Macular Degeneration 2
    Cone-Rod Dystrophy, Type 3
    Retinitis Pigmentosa, Autosomal Recessive
    Stargardt Disease, Autosomal Recessive
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCA4
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (21 hits -- see all)
  • Spectrum of the ABCA4 Gene Mutations Implicated in Severe ...
    exons of the ABCA4 gene by screening with the ABCR400. microarray, and results were conīŦrmed by direct ... 1), although two of them (R943Q and S2255I) are still contro ...
    www.iovs.org/cgi/reprint/48/3/985.pdf
  • Spectrum of the ABCA4 Gene Mutations Implicated in Severe ...
    Spectrum of the ABCA4 Gene Mutations Implicated in Severe Retinopathies in Spanish Patients ... reduces the ATPase activity, and S2255I is supposed to have limited ...
    www.iovs.org/cgi/content/full/48/3/985
  • Microarray-based mutation analysis of the ABCA4 gene in ...
    mutant ABCA4 alleles, has been proposed to explain the se ... For the missense S2255I mutation, the allelic frequency. in our study is 9%. This variant has been described as en ...
    www.molvis.org/molvis/v12/a102/v12a102-valverde.pdf
  • Denaturing HPLC Profiling of the ABCA4 Gene for Reliable ...
    scanning of the ABCA4 gene cumbersome, we describes. here the first use of denaturing HPLC ... ABCA4 gene to assess the sensitivity and the efficiency of ...
    www.clinchem.org/cgi/reprint/clinchem.2004.033241v1.pdf
  • Valverde, Mol Vis 2006; 12:902-908.
    Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt ... The ABCA4 gene encodes the ABCR protein, a member of the ATP-binding ...
    www.molvis.org/molvis/v12/a102
  • Gendia | Microarray Testing
    gendia is an international network consisting of more than 100 laboratories. Gendia currently offers close to 2000 genetic tests.
    www.gendia.net/t18_note1.html
  • Type I- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... ABCA4 P78363 T224M 224 VAR_035736 PKC (0.784) a breast cancer sample, ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Type I- 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... rs3732378) 10731151 ABCA4 P78363 S752I 752 VAR_014703 GSK (0.902) Polymorphism ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt
  • Novel mutations in the <i>ABCA4 </i>gene in French-Canadian ...
    Novel mutations in the ABCA4 gene in French-Canadian patients affected by Stargardt disease. ... R212H, H423R, L1250P, A1773E, N1861I and S2255I, have been previously ...
    www.ashg.org/2009meeting/abstracts/fulltext/f10950.htm

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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