Sequence information
Variant position: 314 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:
KLTRKAAYVRYFNSSAFFFS
G FFVVFLSVLPYALIKGIILR
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 KLTRKAAYVRYFNSSAFFFSG FFVVFLSVLPYALIKGIILR
Gorilla KLTRKAAYVRYFNSSAFFFSG FFVVFLSVLPYALIKGIILR
Rhesus macaque KLTRKAAYVRYFNSSAFFFSG FFVVFLSVLPYALIKGIVLR
Chimpanzee KLTRKAAYVRYFNSSAFFFSG FFVVFLSVLPYALIKGIILR
Mouse KMTRKAAYMRFFTSSAFFFSG FFVVFLSVLPYTVINGIVLR
Rat KMTRRSAYMRFFTSSAFFFSG FFVVFLSVLPYTVINGIVLR
Pig KLTRKAAYVRYFNSSAFFFSG LFVVFLSVLPYALLKGIMLR
Bovine KLTRKAAYVRYLNSSAFFFSG FFVVFLSVLPYALLKGIILR
Rabbit KLTRKAAYVRYFNSSAFFFSG FFVVFLSVLPYALTKGIILR
Sheep KLTRKAAYVRYLNSSAFFFSG FFVVFLSVLPYALLKGIILR
Horse KLTRKAAYVRYFNSSAFFFSG FFVVFLSVLPYALIKGIVLR
Xenopus laevis KLTRKAAYVRYFNSSAFFFSG FFVVFLSIVPHLLLDGISLR
Zebrafish KLTRKIGSLRYFYSSAYFFSA IFVIVAAVVPHALSRGINLR
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
Chain
1 – 1480
Cystic fibrosis transmembrane conductance regulator
Transmembrane
299 – 319
Helical; Name=5
Domain
81 – 365
ABC transmembrane type-1 1
Helix
314 – 328
Literature citations
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
Nasr S.Z.; Strong T.V.; Mansoura M.K.; Dawson D.C.; Collins F.S.;
Hum. Mutat. 7:151-154(1996)
Cited for: VARIANT CF ARG-314;
Disclaimer:
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.