NEU1 P316S - GET-Evidence

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

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Curation:
Currentness:

NEU1 P316S

(NEU1 Pro316Ser)


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
 

    PolyPhen-2
  • Score: 0.756 (possibly damaging)
    Web search results (5 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    0010 SIALIDOSIS, TYPE II NEU1, PRO80LEU In a patient with the severe, congenital form of ... 946 of the NEU1 gene, resulting in a pro316-to-ser (P316S) substitution. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+256550
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 D390N ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • OMIM: 608272
    Neu1 -/- mice show features of human sialidosis and develop a pronounced, age-dependent splenomegaly ... 946 of the NEU1 gene, resulting in a pro316-to-ser (P316S) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+608272
  • ノイラミニダーゼ不足
    クライン、及び、クライン ( 1982年 ) 、及び、Womack、及び、デビッド ( 1982年 ) は、そのD終りでマウスNeu1座のちょうどそのほぼH2をマップしました。 ... ( 2002 ) pro316-to-ser ( P316S ) 代用に帰着するNEU1遺伝子のヌクレオチド946のC-to-T過渡期の間同型 ...
    gs3.fc2web.com/omim8/256550.htm
  • Prediction of the mechanism of action of omuralide (clasto ...
    and P316S) in the coding region were identified in two Japanese sialidosis patients. ... glycosidases, i.e., neuraminidase 1 (NEU1) and beta-galactosidase (GLB), but also ...
    lib.bioinfo.pl/pmid:16870514

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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