Variant position: 258 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 AGLGRMMMKYRDQRAGKISE RLVITSEMIENIQSVKAYCWE
Gorilla AGLGRMMMKYRDQRAGKINE RLVITSEMIENIQSVKAYCWE
Rhesus macaque AGLGRMMMKYRDQRAGKINE RLVITSEMIENIQSVKAYCWE
Chimpanzee AGLGRMMMKYRDQRAGKISE RLVITSEMIENIQSVKAYCWE
Mouse AILGKMMVKYRDQRAAKINE RLVITSEIIDNIYSVKAYCWE
Rat AILGKMMVKYRDKRAAKINE RLVITSEVIDNIYSVKAYCWE
Pig AGLGKMMMKYRDQRAGKINE RLVITSEMIENIQSVKAYCWE
Bovine AGLGKMMMKYRDQRAGKINE RLVITSEMIENIQSVKAYCWE
Rabbit AGLGRMMMKYRDQRAGKINE RLVITSEMIENIQSVKAYCWE
Sheep AGLGKMMMKYRDQRAGKINE RLVITSEMIENIQSVKAYCWE
Dog AGLGRMIMKYRDQRAGKINE RLVITSEVIENIQSVKAYCWE
Horse AGLGRMMMKYRDQRAGKINE RLVITSEMIENIQSVKAYCWE
Xenopus laevis ARLGRMMMKYKDKRAGKINE RLVITSQIIENIQSVKAYCWE
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
242 – 307 Cytoplasmic
81 – 365 ABC transmembrane type-1 1
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
Mercier B.; Verlingue C.; Lissens W.; Silber S.J.; Novelli G.; Bonduelle M.; Audrezet M.-P.; Ferec C.;
Am. J. Hum. Genet. 56:272-277(1995)
Cited for: VARIANTS CBAVD ARG-149; LYS-193; GLY-258 AND GLY-800;
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.