Variant position: 498 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 596 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 NEQNPTDISYVYSGYAPLSV RLAQLLSRP---GWRSIEEVLRIL
Mouse NEQNPTDISYVYSGYAPLSV RLAQLLSRP---GWRSIEEVL
Rat NEQNPTDISYVYSGYAPLSV RLAQLLSRP---GWRSIEEVL
Caenorhabditis elegans SEAKLDDMAYAYSGFSPLLC KMLEEGDRVKWVGW-------
Drosophila VEIEPKDISYVHSFYAPLTA RIVEHSLKP--LGWQTLKSQI
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.
Type Positions Description
1 – 596 Vacuolar protein sorting-associated protein 33A
495 – 504
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
Kondo H.; Maksimova N.; Otomo T.; Kato H.; Imai A.; Asano Y.; Kobayashi K.; Nojima S.; Nakaya A.; Hamada Y.; Irahara K.; Gurinova E.; Sukhomyasova A.; Nogovicina A.; Savvina M.; Yoshimori T.; Ozono K.; Sakai N.;
Hum. Mol. Genet. 26:173-183(2017)
Cited for: INVOLVEMENT IN MPSPS; VARIANT MPSPS TRP-498; CHARACTERIZATION OF VARIANT MPSPS TRP-498; INTERACTION WITH VPS16 AND STX17;
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.
Dursun A.; Yalnizoglu D.; Gerdan O.F.; Yucel-Yilmaz D.; Sagiroglu M.S.; Yuksel B.; Gucer S.; Sivri S.; Ozgul R.K.;
Clin. Dysmorphol. 26:1-12(2017)
Cited for: INVOLVEMENT IN MPSPS; VARIANT MPSPS TRP-498;
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.