SLC6A4 G56A - 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:

SLC6A4 G56A

(SLC6A4 Gly56Ala)


Short summary

 

Variant evidence
Computational -

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.37);
PolyPhen=benign(0.014);
Condel=neutral(0.285)
Mutation Tasting Prediction: Disease causing, p value: 0.982798; protein features (might be) affected (Detail: aa 1-87 TOPO_DOM Cytoplasmic (potential) gets lost).
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 60.00; Class C55
Multi-alignment of P31645.1sodium-dependent serotonin transporter [Homo sapiens] with XP_001135066.2 [Pan troglodytes] ABP01779.1 [Macaca fascicularis] NP_001027995.1 [Macaca mulatta] XP_002748259.1 [Callithrix jacchus] NP_001075293.1 [Equus caballus] XP_003277150.1 [Nomascus leucogenys] XP_002912351.1 [Ailuropoda melanoleuca] NP_001104241.1 [Canis lupus familiaris] XP_003131833.1 [Sus scrofa] NP_777034.1 [Bos taurus]

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

  • G @ chr17:28548810: 1.5% (164/10758) in EVS
  • G @ chr17:25572935: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.5% (164/10758)

Publications
 

Wendland JR, Kruse MR, Murphy DL. Functional SLITRK1 var321, varCDfs and SLC6A4 G56A variants and susceptibility to obsessive-compulsive disorder. Mol Psychiatry. 2006 Sep;11(9):802-4. PubMed PMID: 16936762.

 

Genomes
 

Other external references
 

    dbSNP
  • rs6355
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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