UniProtKB/SwissProt variant VAR

Beta-glucuronidase
Gene: GUSB
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Variant information Variant position:

362
Type of variant:

LP/P [Disclaimer]
Residue change:

From Aspartate (D) to Asparagine (N) at position 362 (D362N, p.Asp362Asn).
Physico-chemical properties:

Change from medium size and acidic (D) to medium size and polar (N)
BLOSUM score:

1
Variant description:

In MPS7.
Other resources:

Variant rs398123234 [ dbSNP | Ensembl ]

Sequence information Variant position:

362
Protein sequence length:

651
Location on the sequence:

PFYFHGVNKHEDADIRGKGF D WPLLVKDFNLLRWLGANAFR
Residue conservation:

Human                         PFYFHGVNKHEDADIRGKGFDWPLLVKDFNLLRWLGANAFR

                              PFYFHGVNKHEDADIRGKGFDWPLLVKDFNLLRWLGANAFR

Mouse                         PFYFQGVNKHEDSDIRGKGFDWPLLVKDFNLLRWLGANSFR

Rat                           PFYFQGVNKHEDSDIRGRGFDWPLLIKDFNLLRWLGANSFR

Pig                           PFYFHGVNKHEDADIRGKGFDWSLLVKDFNLLRWLGANAFR

Cat                           PFYFHGVNKHEDADIRGKGFDWPLLVKDFNLLRWLGANAFR

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.Asp362Asn