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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08236: Variant p.Arg382Cys

Beta-glucuronidase
Gene: GUSB
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Variant information Variant position: help 382
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Cysteine (C) at position 382 (R382C, p.Arg382Cys).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C)
BLOSUM score: help -3
Variant description: help In MPS7.
Other resources: help


Sequence information Variant position: help 382
Protein sequence length: help 651
Location on the sequence: help DWPLLVKDFNLLRWLGANAF R TSHYPYAEEVMQMCDRYGIV
Residue conservation: help 
Human                         DWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIV

                              DWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQLCDRYGIV

Mouse                         DWPLLVKDFNLLRWLGANSFRTSHYPYSEEVLQLCDRYGIV

Rat                           DWPLLIKDFNLLRWLGANSFRTSHYPYSEEVLQLCDRYGIV

Pig                           DWSLLVKDFNLLRWLGANAFRTSHYPYAEEVMQLCDRYGIV

Cat                           DWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQLCDRYGIV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 23 – 651 Beta-glucuronidase
Beta strand 380 – 382



Literature citations
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.
Tomatsu S.; Fukuda S.; Sukegawa K.; Ikedo Y.; Yamada S.; Yamada Y.; Sasaki T.; Okamoto H.; Kuwahara T.; Yamaguchi S.; Kiman T.; Shintaku H.; Isshiki G.; Orii T.;
Am. J. Hum. Genet. 48:89-96(1991)
Cited for: VARIANTS MPS7 CYS-382 AND VAL-619; 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.