Variant position: 244 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 FCGLGFLIVLALFQAGLGRM MMKYRDQRAGKISERLVITSE
Gorilla FCGLGFLIVLALFQAGLGRM MMKYRDQRAGKINERLVITSE
Rhesus macaque FCGLGFLIVLALFQAGLGRM MMKYRDQRAGKINERLVITSE
Chimpanzee FCGLGFLIVLALFQAGLGRM MMKYRDQRAGKISERLVITSE
Mouse FCGLGLLIILVIFQAILGKM MVKYRDQRAAKINERLVITSE
Rat FCGLGLLIVLVIFQAILGKM MVKYRDKRAAKINERLVITSE
Pig FCGLAFLVVLALFQAGLGKM MMKYRDQRAGKINERLVITSE
Bovine FCGLAFLIVLALLQAGLGKM MMKYRDQRAGKINERLVITSE
Rabbit FCGLAFLIVLALVQAGLGRM MMKYRDQRAGKINERLVITSE
Sheep FCGLAFLVVLALLQAGLGKM MMKYRDQRAGKINERLVITSE
Horse FCGLAFLIVLALFQAGLGRM MMKYRDQRAGKINERLVITSE
Xenopus laevis FCGLGFLIILSLFQARLGRM MMKYKDKRAGKINERLVITSQ
Zebrafish FCALAAISLLGVLQAFLSHK MGPYKAQKVLLTNKRLALTSE
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
244 – 298 Cytoplasmic
81 – 365 ABC transmembrane type-1 1
222 – 244
Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations.
de Meeus A.; Guittard C.; Desgeorges M.; Carles S.; Demaille J.; Claustres M.;
Cited for: VARIANTS CBAVD LEU-111; LYS-244; VAL-544 AND VAL-1364;
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