NEU1 P316S - GET-Evidence

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

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NEU1 P316S

(NEU1 Pro316Ser)

Short summary


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


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • 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. ...
  • 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 ...
  • 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. ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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