UniProtKB/SwissProt variant VAR

Beta-glucuronidase
Gene: GUSB
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Variant information Variant position:

136
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Arginine (R) at position 136 (G136R, p.Gly136Arg).
Physico-chemical properties:

Change from glycine (G) to large size and basic (R)
BLOSUM score:

-2
Variant description:

In MPS7.
Other resources:

Variant rs1417426295 [ dbSNP | Ensembl ]

Sequence information Variant position:

136
Protein sequence length:

651
Location on the sequence:

RTRVVLRIGSAHSYAIVWVN G VDTLEHEGGYLPFEADISNL
Residue conservation:

Human                         RTRVVLRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNL

                              GTRVVLRIGSAHYYAIVWVNGVHVAEHEGGHLPFEADISKL

Mouse                         DMRVVLRINSAHYYAVVWVNGIHVVEHEGGHLPFEADISKL

Rat                           DRRVVLRINSAHYYAVVWVNGIHVVEHEGGHLPFEADITKL

Pig                           GTRVVLRISSAHYYAIVWVNGVHVTEHEGGHLPFEADISKL

Cat                           GTRVVLRIGSAHYYAIVWVNGVHVAEHEGGHLPFEADISKL

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	23 – 651	Beta-glucuronidase

Literature citations
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.
Vervoort R.; Islam M.R.; Sly W.S.; Zabot M.T.; Kleijer W.J.; Chabas A.; Fensom A.; Young E.P.; Liebaers I.; Lissens W.;
Am. J. Hum. Genet. 58:457-471(1996)
Cited for: VARIANTS MPS7 ARG-136; LYS-150; PHE-176; TRP-216; CYS-320; SER-320; TYR-351; CYS-374; CYS-382; HIS-382; PRO-435; TRP-477; CYS-508; ASP-572; ASN-606 AND CYS-627;

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.Gly136Arg