ANK2 P2835S - 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:

ANK2 P2835S

(ANK2 Pro2835Ser)


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 @ chr4:114278277: 14.8% (1589/10758) in EVS
  • T @ chr4:114497725: 18.0% (23/128) in GET-Evidence
  • Frequency shown in summary reports: 14.8% (1589/10758)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr4:114278277

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr4:114278277

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr4:114278277

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr4:114278277

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr4:114497726

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr4:114497726

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr4:114497726

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr4:114497726

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr4:114497726

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr4:114497726

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr4:114497726

 

GS18558 - var-GS18558-1100-36-ASM
hom T @ chr4:114497726

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr4:114497726

 

GS19025 - var-GS19025-1100-36-ASM
hom T @ chr4:114497726

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr4:114497726

 

GS19129 - var-GS19129-1100-36-ASM
hom T @ chr4:114497726

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr4:114497726

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr4:114497726

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr4:114497726

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr4:114497726

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr4:114497726

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr4:114497726

 

Other external references
 

    dbSNP
  • rs3733617
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (5 hits -- see all)
  • "Genome-Wide Association Studies: A Pharmaceutical Research ...
    ANK2. Structural. Protein. Structural. LQT5. 21q22.1. KCNE1 (Mink) KCNE1 ... P2835S T (mouse) 7.4 2.6 3.5 28.8. rs36210417 I3285T. Yes. 1.5 2.1 1.1. 0. rs36210418 S3300R ...
    fnih.org/images/stories/.../milos gain presentation~3.pdf
  • ANK2_Ankyrin mutations
    found in 6subjects spanning from normal to over LQT phenotype and cardiac arrest. ... P2835S. cSNP. TdP. Mank-Seymour 2006. I3285T. cSNP. TdP. Mank-Seymour 2006. S3300R. cSNP. TdP. Mank ...
    www.fsm.it/cardmoc/ANK2mut.htm
  • Association Study Data (March 2003)
    ANK2.A2369V. 0.18. 0.45. 0.57. 0.91. 0.34. 0.47. 0.85. 0.24. 0.08. 0.37. 0.39 ... ANK2.P2835S. 0.43. 0.74. 0.06. 0.52. 0.03. 0.02. 0.19. 0.17. 0.50. 0.09. 0.07. 0.19. 0.20. 0.63. 0.02 ...
    pga.swmed.edu/Data/SNPs/SNP_Associations.htm
  • Are The Stars Aligned for Personalized Healthcare to Become A ...
    ANK2. Structural. Protein. Structural. LQT5. 21q22.1. KCNE1 (Mink) KCNE1 ... P2835S T (mouse) 7.4 2.6 3.5 28.8. rs36210417 I3285T. Yes. 1.5 2.1 1.1. 0. rs36210418 S3300R ...
    nixonpeabody.com/.../presentations/milos_stars-aligned.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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