HPS4 Q181X - 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.

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Curation:
Currentness:

HPS4 Q181X

(HPS4 Gln181Stop)


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
 

    Web search results (4 hits -- see all)
  • HPS4
    HPS4 may be involved in the biogenesis of early melanosomes and the ... Suzuki, et al revealed that HPS4 and HPS1 proteins function in the same pathway ...
    210.75.224.41/HPSD/HPS4.htm
  • Mendelian Inheritance in Man Document Reader
    These results suggested that the HPS4 and HPS1 proteins function in the same pathway of organelle biogenesis. ... to-ter (Q181X, CAG-TAG) nonsense mutation in the HPS4 gene in ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+606682
  • letter
    These results suggest that the HPS4 and HPS1 proteins may. function in ... 2 Alignment of the mouse HPS4 polypeptide sequence with homologous segments ...
    p973.ccmu.edu.cn/2-xiangmujianjie/xueshugugan/5-liwei/5.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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