UniProtKB/SwissProt variant VAR

Arylsulfatase B
Gene: ARSB
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Variant information Variant position:

393
Type of variant:

LP/P [Disclaimer]
Residue change:

From Histidine (H) to Proline (P) at position 393 (H393P, p.His393Pro).
Physico-chemical properties:

Change from medium size and polar (H) to medium size and hydrophobic (P)
BLOSUM score:

-2
Variant description:

In MPS6; mild/severe form.
Other resources:

Variant rs118203944 [ dbSNP | Ensembl ]

Sequence information Variant position:

393
Protein sequence length:

533
Location on the sequence:

GFDVWKTISEGSPSPRIELL H NIDPNFVDSSPCPRNSMAPA
Residue conservation:

Human                         GFDVWKTISEGSPSPRIELLHNIDPN---FVDSSP--CPRNSMAPA

Mouse                         GFNMWKTISEGHPSPRVELLHNIDQD---FFDGLP--CPGK

Rat                           GFDVWETISEGSPSPRVELLLNIDPD---FFDGLP--CPGK

Cat                           GFDVWKTISEGSPSPRKELLHNIDPN---FVDISP--CPGK

Slime mold                    GVSILMICERKDIT---DIINSVDWELLLFFSGLFVLVEGF

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15848: Variant p.His393Pro