KIF21A I1010T - GET-Evidence

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

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Curation:
Currentness:

KIF21A I1010T

(KIF21A Ile1010Thr)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the KIF21A gene
    Congenital Fibrosis of the Extraocular Muscles
    Congenital Fibrosis of the Extraocular Muscles 1
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KIF21A
    PolyPhen-2
  • Score: 0.812 (possibly damaging)
    Web search results (12 hits -- see all)
  • Heterozygous mutations of the kinesin KIF21A in congenital ...
    I1010T. 21. Yes. 24. CA. USA. 2,840T. G. M947R. 20. Yes. 28 (d) Summary of KIF21A mutations in ... polymorphisms and three new polymorphic markers within and adjacent to KIF21A. ...
    childrenshospital.org/.../Copy of Yamada[3].NatGen.pdf
  • Arch Ophthalmol -- A Novel KIF21A Mutation in a Patient With ...
    A Novel KIF21A Mutation in a Patient With Congenital Fibrosis of the ... AL03 harbors a 3029TC mutation (I1010T). The remaining 3 patients (EO01, EX01, and ...
    archopht.ama-assn.org/cgi/content/full/123/9/1254
  • CONGENITAL ABNORMALITIES OF CRANIAL NERVE DEVELOPMENT ...
    ... mutation analysis of the ARIX and KIF21A genes in patients with CFEOM were ... had the second most common mutation in KIF21A, a 2861 G>A mutation that resulted ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1280110/?tool=pubmed
  • A Novel KIF21A Mutation in a Patient With Congenital Fibrosis ...
    parents underwent screening for mutations in the KIF21A ... resulting from KIF21A mutations is in the nervous sys- tem (neurogenic) and/or the ...
    archopht.ama-assn.org/cgi/reprint/123/9/1254.pdf
  • BMC Genetics
    KIF21A encodes a kinesin motor involved in anterograde axonal transport, and the ... region of the KIF21A stalk, further highlighting the importance of alterations ...
    www.biomedcentral.com/content/pdf/1471-2156-8-26.pdf
  • CONGENITAL ABNORMALITIES OF CRANIAL NERVE DEVELOPMENT ...
    of the ARIX and KIF21A genes in patients with CFEOM were performed according to ... I1010T) also alter conserved amino acid residues within the. KIF21A ...
    www.aosonline.org/xactions/2004/1545-6110_v102_p373.pdf
  • Three novel mutations in KIF21A highlight the importance of ...
    KIF21A encodes a kinesin motor involved in anterograde axonal transport, and the ... Three previously unreported de novo KIF21A mutations were identified in three ...
    biomedcentral.com/content/download/xml/1471-2156-8-26.xml
  • OMIM: 608283
    Immunofluorescence staining localized Kif21a in neural cell bodies and in dendrites and axons. ... 3029 of the KIF21A gene, resulting in an ile1010-to-thr (I1010T) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+608283

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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