Variant position: 210 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 533 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human TRCALDFRDGEEV------ATGYKNM YSTNIFTKRAIALITNHPPEK
Mouse TRCALDLRDGEEP------AKEYNNI YSTNIFTKRATTVIA
Rat TRCALDLRDGEEP------AKEYTDI YSTNIFTKRATTLIA
Cat TRCALDFRDGEQV------ATGYKNM YSTNIFTERATALIT
Slime mold GSSALPVGNPQNMIIATAGGLNFFNF FKVSI----VSSILG
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
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;
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.
Karageorgos L.; Harmatz P.; Simon J.; Pollard A.; Clements P.R.; Brooks D.A.; Hopwood J.J.;
Hum. Mutat. 23:229-233(2004)
Cited for: VARIANTS MPS6 TYR-86 DEL; CYS-210; PRO-236; CYS-312; GLN-315; PRO-321 AND GLY-484; VARIANTS MET-358; MET-376 AND ASN-384; CHARACTERIZATION OF VARIANTS MPS6 TYR-86 DEL AND CYS-312;
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.