Variant position: 67 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 541 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 VNVRLTLLYSTTLFLAREAF RRACLSGGTQRD--------------------WSQTLNLLW
Mouse VNVRLTLLYSTTTFLAREAF RRACLSGGAQRD---------
Xenopus tropicalis VNVRLTLFYTTVVFLAREAF RRACLSHSAQQS---------
Caenorhabditis elegans VNVRLTLLYSSILFLTREPL RKAEIIRGS------------
Drosophila MNVRLLLLESTLLFLSREAI NRAALSANAQQGDRCS-----
Slime mold SAIQYQLLSSIILFLSREAI RRACTRVNITDKLNNDNN---
Baker's yeast TAF-LEFIQGTVLFFSRDAI RLSTLRISDSGNGIIDDDDEE
Fission yeast SSIHFEILQSTILFLSRESV RLAMQRIPSENAIITSTS--T
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 – 541 Protein RFT1 homolog
Human RFT1 deficiency leads to a disorder of N-linked glycosylation.
Haeuptle M.A.; Pujol F.M.; Neupert C.; Winchester B.; Kastaniotis A.J.; Aebi M.; Hennet T.;
Am. J. Hum. Genet. 82:600-606(2008)
Cited for: FUNCTION; VARIANT CDG1N CYS-67;
RFT1 deficiency in three novel CDG patients.
Vleugels W.; Haeuptle M.A.; Ng B.G.; Michalski J.-C.; Battini R.; Dionisi-Vici C.; Ludman M.D.; Jaeken J.; Foulquier F.; Freeze H.H.; Matthijs G.; Hennet T.;
Hum. Mutat. 30:1428-1434(2009)
Cited for: VARIANTS CDG1N CYS-67; GLU-152 AND LYS-298;
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.