Variant position: 339 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 443 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 QDALLQSDLTLCPVGVNTEC YRIYEACSYGSIPVVEDVMTA
Mouse QDALLHSDLTLCPVGVNTEC YRIYEACSFGSIPVVEDVMTA
Zebrafish QMALAQSDLTLCPVGVNSEC YRIYEACAYGSVPVVEDVLTP
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 – 443 Ribitol-5-phosphate xylosyltransferase 1
31 – 443 Extracellular
The muscular dystrophy gene TMEM5 encodes a ribitol beta1,4-xylosyltransferase required for the functional glycosylation of dystroglycan.
Manya H.; Yamaguchi Y.; Kanagawa M.; Kobayashi K.; Tajiri M.; Akasaka-Manya K.; Kawakami H.; Mizuno M.; Wada Y.; Toda T.; Endo T.;
J. Biol. Chem. 291:24618-24627(2016)
Cited for: FUNCTION; CATALYTIC ACTIVITY; PATHWAY; CHARACTERIZATION OF VARIANTS MDDGA10 CYS-339 AND LEU-340;
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Vuillaumier-Barrot S.; Bouchet-Seraphin C.; Chelbi M.; Devisme L.; Quentin S.; Gazal S.; Laquerriere A.; Fallet-Bianco C.; Loget P.; Odent S.; Carles D.; Bazin A.; Aziza J.; Clemenson A.; Guimiot F.; Bonniere M.; Monnot S.; Bole-Feysot C.; Bernard J.P.; Loeuillet L.; Gonzales M.; Socha K.; Grandchamp B.; Attie-Bitach T.; Encha-Razavi F.; Seta N.;
Am. J. Hum. Genet. 91:1135-1143(2012)
Cited for: VARIANTS MDDGA10 CYS-339 AND LEU-340;
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