Variant position: 513 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1480 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 QFSWIMPGTIKENIIFGVSY DEYRYRSVIKACQLEEDISKF
Gorilla QFSWIMPGTIKENIIFGVSY DEYRYRSVIKACQLEEDISKF
Rhesus macaque QFSWIMPGTIKENIIFGVSY DEYRYRSVINACQLEEDISKF
Chimpanzee QFSWIMPGTIKENIIFGVSY DEYRYRSVIKACQLEEDISKF
Mouse QFSWIMPGTIKENIIFGVSY DEYRYKSVVKACQLQQDITKF
Rat QISWIMPGTIKENIIFGVSY DEYRYKSVVKACQLQEDITKF
Pig QFSWIMPGTIKENIIFGVSY DEYRYRSVIKACQLEEDISKF
Bovine QYSWIMPGTIKDNIIFGVSY DEYRYRSVIKACQLEEDISKF
Rabbit QFSWIMPGTIKENIIFGVSY DEYRYKSVIKACQLEEDISKF
Sheep QYSWIMPGTIKDNIIFGVSY DEYRYRSVIKACQLEEDISKF
Horse QFSWIMPGTIKENIIFGVSY DEYRYRSVIKACQLEEDISKF
Xenopus laevis QVSWIMPGTIKENIVFGVSY DQYRYLSVIKACQLEEDISKF
Zebrafish QTAWIMPGTIRDNILFGLTY DEYRYKSVVKACQLEEDLAAL
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 – 1480 Cystic fibrosis transmembrane conductance regulator
359 – 858 Cytoplasmic
423 – 646 ABC transporter 1
493 – 493 ATP 1
524 – 524 S-palmitoyl cysteine
508 – 508 F -> R. Impaired maturation of glycan chains indicating impaired trafficking from the endoplasmic reticulum to the cell membrane.
A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient.
Bienvenu T.; Bousquet S.; Vidaud D.; Hubert D.; Francoual C.; Beldjord C.; Kaplan J.-C.;
Hum. Mutat. 12:213-214(1998)
Cited for: VARIANT CBAVD GLY-513; VARIANT MET-470;
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