Sequence information
Variant position: 92 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:
ALRRCFFWRFMFYGIFLYLG
E VTKAVQPLLLGRIIASYDPD
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 ALRRCFFWRFMFYGIFLYLGE VTKAVQPLLLGRIIASYDPD
Gorilla ALRRCFFWRFMFYGIFLYLGE VTKAVQPLLLGRIIASYDPD
Rhesus macaque ALRRCFFWRFMFYGILLYLGE VTKAVQPLLLGRIIASYDPD
Chimpanzee ALRRCFFWRFMFYGIFLYLGE VTKAVQPLLLGRIIASYDPD
Mouse ALRRCFFWRFLFYGILLYLGE VTKAVQPVLLGRIIASYDPE
Rat ALRRCFVWRFVFYGVLLYLGE VTKAVQPVLLGRIIASYDPD
Pig ALRRCFFWRFMFYGIILYLGE VTKAVQPLLLGRIIASYDPD
Bovine ALRRCFFWRFMFYGIILYLGE VTKAVQPLLLGRIIASYDPD
Rabbit ALRRCFFWRFMFYGILLYLGE VTKAVQPLLLGRIIASYDPD
Sheep ALRRCFFWRFMFYGIILYLGE VTKAVQPLLLGRIIASYDPD
Horse ALRRCFFWRFMFYGIILYLGE VTKAVQPLLLGRIIASYDPD
Xenopus laevis ALKRCFFWKFLFYGILLYLGE VTKAVQPLLLGRIIASYDRD
Zebrafish AMARCYIKPFLLFGFLLYIGE ATKTVQPQLLGRIIASFDPA
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
78 – 98
Helical; Name=1
Domain
81 – 365
ABC transmembrane type-1 1
Helix
70 – 97
Literature citations
Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
Shackleton S.; Beards F.; Harris A.;
Hum. Mol. Genet. 1:439-440(1992)
Cited for: VARIANTS CF LYS-92 AND CYS-117;
A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.
Nunes V.; Chillon M.; Doerk T.; Tuemmler B.; Casals T.; Estivill X.;
Hum. Mol. Genet. 2:79-80(1993)
Cited for: VARIANT CF LYS-92;
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.