Variant position: 151 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 622 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 GPKHWSDSRYEHVMKLRQAA LKSARDMWADYILFVDADNLI
Mouse GPKHWSDSRYEHVMKLRQAA LKSARDMWADYILFMDIDNLI
Bovine GPKHWSDSRYEHVMKLRQAA LKSARDMWADYILFVDADNLI
Zebrafish GPKHWTNLRYEHVMKLRQAA LETAREMWADYFMLVDCDNLL
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
30 – 622 Procollagen galactosyltransferase 1
166 – 166 D -> A. Loss of galactosyltransferase activity; when associated with A-168.
168 – 168 D -> A. Loss of galactosyltransferase activity; when associated with A-166.
Biallelic COLGALT1 variants are associated with cerebral small vessel disease.
Miyatake S.; Schneeberger S.; Koyama N.; Yokochi K.; Ohmura K.; Shiina M.; Mori H.; Koshimizu E.; Imagawa E.; Uchiyama Y.; Mitsuhashi S.; Frith M.C.; Fujita A.; Satoh M.; Taguri M.; Tomono Y.; Takahashi K.; Doi H.; Takeuchi H.; Nakashima M.; Mizuguchi T.; Takata A.; Miyake N.; Saitsu H.; Tanaka F.; Ogata K.; Hennet T.; Matsumoto N.;
Ann. Neurol. 84:843-853(2018)
Cited for: FUNCTION; INVOLVEMENT IN BSVD3; VARIANTS BSVD3 ARG-151; PRO-154 AND ARG-377; CHARACTERIZATION OF VARIANT BSVD3 ARG-151;
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.