UniProtKB/SwissProt variant VAR

Beta-glucuronidase
Gene: GUSB
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Variant information Variant position:

607
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Alanine (A) at position 607 (G607A, p.Gly607Ala).
Physico-chemical properties:

Change from glycine (G) to small size and hydrophobic (A)
BLOSUM score:

0
Variant description:

In MPS7.
Other resources:

Variant rs1250112198 [ dbSNP | Ensembl ]

Sequence information Variant position:

607
Protein sequence length:

651
Location on the sequence:

WNFADFMTEQSPTRVLGNKK G IFTRQRQPKSAAFLLRERYW
Residue conservation:

Human                         WNFADFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRERYW

                              WNFADFMTDQSPQRAVGNRKGIFTRQRQPKAAAFLLRERYW

Mouse                         WNFADFMTNQSPLRVIGNKKGIFTRQRQPKTSAFILRERYW

Rat                           WNFADFMTNQSPLRVTGNKKGIFTRQRNPKMAAFILRERYW

Pig                           WNFADFMTDQSPQRAIGNRKGIFTRQRQPKSAAFLLRERYW

Cat                           WNFADFMTNQSPQRVMGNKKGIFTRQRQPKGAAFLLRERYW

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	23 – 651	Beta-glucuronidase

Literature citations
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Tomatsu S.; Montano A.M.; Dung V.C.; Grubb J.H.; Sly W.S.;
Hum. Mutat. 30:511-519(2009)
Cited for: VARIANTS MPS7 SER-30; GLY-152; PRO-243; SER-339; 361-PHE--ASP-369 DEL; ASN-362; LEU-364; LYS-540 AND ALA-607;

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 P08236: Variant p.Gly607Ala