Variant position: 141 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1012 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 SSLYKSLVSGSDKENQKGFL MHFLKELAEYHQAKESCNMET
Mouse SSLYKSLISGFDKENKKGFL MSFLKELAEYYQAKESCDAET
Zebrafish MPLYKSLVSNI-QSGQSGFL KSLLMELTDHSVYRDCSDNST
Fission yeast ALYSEEFRSHVQKITGCGPL SASKKDLS-VNVYSKGCHLMN
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 – 1012 Oral-facial-digital syndrome 1 protein
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: A study of the extensive clinical variability.
Bisschoff I.J.; Zeschnigk C.; Horn D.; Wellek B.; Riess A.; Wessels M.; Willems P.; Jensen P.; Busche A.; Bekkebraten J.; Chopra M.; Hove H.D.; Evers C.; Heimdal K.; Kaiser A.S.; Kunstmann E.; Robinson K.L.; Linne M.; Martin P.; McGrath J.; Pradel W.; Prescott K.E.; Roesler B.; Rudolf G.; Siebers-Renelt U.; Tyshchenko N.; Wieczorek D.; Wolff G.; Dobyns W.B.; Morris-Rosendahl D.J.;
Hum. Mutat. 34:237-247(2013)
Cited for: VARIANT OFD1 ARG-141;
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