Variant position: 590 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 747 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 LEWVTLDTNIAYWLHPRTSA QIHLLGNIVIWVSGSLALAIY
Mouse LEWLTLDTNIAYWLHPRTSA QIHLLGNIVIWTSASLATVVY
Rat LEWLTLDTNIAYWLHPRTSA QIHLLGNIVIWTSASLATVAY
Zebrafish LEWITMDTNIAYWLHPSSNA QIHFIGNIVTWTTGNITLVVY
Drosophila HEWPLMDKGIAYWLDSQSSA QIYLLGNILLWYTATMGILVY
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 – 747 Protein O-mannosyl-transferase 1
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
van Reeuwijk J.; Maugenre S.; van den Elzen C.; Verrips A.; Bertini E.; Muntoni F.; Merlini L.; Scheffer H.; Brunner H.G.; Guicheney P.; van Bokhoven H.;
Hum. Mutat. 27:453-459(2006)
Cited for: VARIANTS MDDGB1 ARG-65; MET-140 DEL; CYS-582 AND HIS-590; VARIANTS MDDGA1 CYS-105; HIS-105 AND VAL-207; VARIANTS PHE-285 AND LYS-522;
Expanding the clinical spectrum of POMT1 phenotype.
D'Amico A.; Tessa A.; Bruno C.; Petrini S.; Biancheri R.; Pane M.; Pedemonte M.; Ricci E.; Falace A.; Rossi A.; Mercuri E.; Santorelli F.M.; Bertini E.;
Cited for: VARIANTS MDDGB1 ARG-65; HIS-590 AND THR-669;
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.