Variant position: 131 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 507 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 FMRTTVLIADLLIYIPAVVL YCCCL---KEISTKKKIANALCIL
Mouse FMRATVLAADLLIYVPAVLL YCYSL---KEISPKRKIASAL
Rat FMRTTVLAADLLIYIPAVLL YCYSL---KEISPKRKIASAL
Chicken FMRTTVFVADLLIYIPAVIL YCCSL---KETSTKKKVSSAL
Caenorhabditis elegans FMRLSAIIPFYIFYLPPLIF YFTRS---KKMSP----ILYA
Drosophila FMRATVVSADVLIYLPAMLL LAYSLD--KAFRSDDKLFLFT
Slime mold FMRMTVIVSDLFIWLPSVWF FVKTFY--KQRNISQQISAFL
Baker's yeast YMRSTVIISDILFYFPAVIY FTKWLGRYRNQSPIGQSIAAS
Fission yeast FMRSTVIASHLLILVPPLMF YSKWWSR-RIPNFVDRNASLI
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 – 507 Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase
115 – 135 Helical
Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.
Westphal V.; Murch S.; Kim S.; Srikrishna G.; Winchester B.; Day R.; Freeze H.H.;
Am. J. Pathol. 157:1917-1925(2000)
Cited for: VARIANTS CDG1C HIS-131; ARG-308 AND VAL-333;
Identification of a frequent variant in ALG6, the cause of congenital disorder of glycosylation-Ic.
Westphal V.; Xiao M.; Kwok P.-Y.; Freeze H.H.;
Hum. Mutat. 22:420-421(2003)
Cited for: VARIANT CDG1C HIS-131;
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