Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15848: Variant p.His393Pro

Arylsulfatase B
Gene: ARSB
Feedback?
Variant information Variant position: help 393
Type of variant: help LP/P [Disclaimer]
Residue change: help From Histidine (H) to Proline (P) at position 393 (H393P, p.His393Pro).
Physico-chemical properties: help Change from medium size and polar (H) to medium size and hydrophobic (P)
BLOSUM score: help -2
Variant description: help In MPS6; mild/severe form.
Other resources: help


Sequence information Variant position: help 393
Protein sequence length: help 533
Location on the sequence: help GFDVWKTISEGSPSPRIELL H NIDPNFVDSSPCPRNSMAPA
Residue conservation: help
Human                         GFDVWKTISEGSPSPRIELLHNIDPN---FVDSSP--CPRNSMAPA

Mouse                         GFNMWKTISEGHPSPRVELLHNIDQD---FFDGLP--CPGK

Rat                           GFDVWETISEGSPSPRVELLLNIDPD---FFDGLP--CPGK

Cat                           GFDVWKTISEGSPSPRKELLHNIDPN---FVDISP--CPGK

Slime mold                    GVSILMICERKDIT---DIINSVDWELLLFFSGLFVLVEGF

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 37 – 533 Arylsulfatase B
Disulfide bond 117 – 521
Beta strand 390 – 396



Literature citations
Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS6 patients.
Litjens T.; Brooks D.A.; Peters C.; Gibson G.J.; Hopwood J.J.;
Am. J. Hum. Genet. 58:1127-1134(1996)
Cited for: VARIANTS MPS6 MET-92; GLN-95; CYS-210; PRO-393 AND PRO-498;
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.