Sequence information
Variant position: 31 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:
VVSKLFFSWTRPILRKGYRQ
R LELSDIYQIPSVDSADNLSE
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 VVSKLFFSWTRPILRKGYRQR LELSDIYQIPSVDSADNLSE
Gorilla VVSKLFFSWTRPILRKGYRQR LELSDIYQIPSVDSADNLSE
Rhesus macaque VVSKLFFSWTRPILRKGYRQR LELSDIYQIPSADSADNLSE
Chimpanzee VVSKLFFSWTRPILRKGYRQR LELSDIYQIPSVDSADNLSE
Mouse FISKLFFSWTTPILRKGYRHH LELSDIYQAPSADSADHLSE
Rat FISKLFFSWTTPILRKGYRHH LELSDIYQAPSSDSADHLSE
Pig IFSKLFFSWTRPILRKGYRQR LELSDIYHISSSDSADNLSE
Bovine VVSKLFFSWTRPILKKGYRQR LELSDIYHISSSDSADNLSE
Rabbit VLSKLFFSWTRPILRKGYRQR LELSDIYQIPSADSADNLSE
Sheep VVSKLFFSWTRPILKKGYRQR LELSDIYHISSSDSADNLSE
Horse VISKLFFSWTRPILRKGYRQR LELSDIYQIPSADSADNLSE
Xenopus laevis IFSQIFFSWTKPILWKGYRQR LELSDIYQIHPGDSADNLSE
Zebrafish CLSRYFFWWTNPIMRKGFKEK LRPSDVYQAPSQDAADILAE
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
Topological domain
1 – 77
Cytoplasmic
Literature citations
Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Zielenski J.; Markiewicz D.; Chen H.S.; Schappert K.T.; Seller A.; Durie P.; Corey M.; Tsui L.-C.;
Hum. Mutat. 5:43-47(1995)
Cited for: VARIANTS CF LEU-31 AND ARG-1098;
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.