KAL1 S396L - GET-Evidence

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

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Curation:
Currentness:

KAL1 S396L

(KAL1 Ser396Leu)


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

  • A @ chrX:8536293: 0.0% (1/8761) in EVS
  • Frequency shown in summary reports: 0.0% (1/8761)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.013 (benign)
    Web search results (6 hits -- see all)
  • PLoS Genetics: Kallmann Syndrome: Mutations in the Genes ...
    Loss-of-function mutations in KAL1 and FGFR1 underlie the X chromosome-linked form and an ... undescribed missense mutation, p.S396L, in KAL1 exon 8 (Figure S3), which was not ...
    plosgenetics.org/article/info:doi/10.1371/...
  • Kallmann Syndrome: Mutations in the Genes Encoding ...
    Loss-of-function mutations in KAL1 and FGFR1 underlie the X chromosome-linked form and an ... undescribed missense mutation, p.S396L, in KAL1 exon 8 (Figure S3), which was not ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1617130
  • Supplementary table 4
    PROKR2 and PROK2 mutations in Kallmann syndrome. Exon. Nucleotide ... mutation in PROKR2 together with a p.S396L mutation in KAL1 (Dodé et al., 2006) ...
    www.nature.com/ejhg/journal/v17/n2/extref/ejhg2008206x4.doc
  • Type I- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... CK2 (0.813) neuroblastoma 8047138 CAV3 P56539 S61R 61 VAR_026696 PKC ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Supplementary Table 47‐1
    Mutations in KAL1 are mainly nonsense mutations, frame shifting mutations and ... Notably, S396L missense mutation has been found in the patient together with a ...
    www.nature.com/ejhg/journal/v17/n2/extref/ejhg2008206x1.doc

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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