UniProtKB/SwissProt variant VAR

Polyphosphoinositide phosphatase
Gene: FIG4
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Variant information Variant position:

48
Type of variant:

LB/B
Residue change:

From Aspartate (D) to Glycine (G) at position 48 (D48G, p.Asp48Gly).
Physico-chemical properties:

Change from medium size and acidic (D) to glycine (G)
BLOSUM score:

-1
Other resources:

Variant rs1296748657 [ dbSNP | Ensembl ]

Sequence information Variant position:

48
Protein sequence length:

907
Location on the sequence:

GSNNAETKYRVLKIDRTEPK D LVIIDDRHVYTQQEVRELLG
Residue conservation:

Human                         GSNNAETKYRVLKIDRTEPK-DLVIIDDRHVYTQQEVRELLG

Mouse                         GSNHAETKYRVLKIDRTEPK-DLVVIDDRHVYTQQEVRELL

Baker's yeast                 GSNKRETMFRILEIDLTVPRGELTVLEDNVFFTRNEIMNVL

Fission yeast                 SENATATIFRILKITQSEDELSISIEEAAKILFRQKLQLYL

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 907	Polyphosphoinositide phosphatase

Literature citations
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
Chow C.Y.; Landers J.E.; Bergren S.K.; Sapp P.C.; Grant A.E.; Jones J.M.; Everett L.; Lenk G.M.; McKenna-Yasek D.M.; Weisman L.S.; Figlewicz D.; Brown R.H.; Meisler M.H.;
Am. J. Hum. Genet. 84:85-88(2009)
Cited for: VARIANT ALS11 TYR-53; VARIANTS GLY-48; GLY-388; VAL-411; CYS-647 AND THR-902;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92562: Variant p.Asp48Gly