UniProtKB/SwissProt variant VAR

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position:

458
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Valine (V) at position 458 (G458V, p.Gly458Val).
Physico-chemical properties:

Change from glycine (G) to medium size and hydrophobic (V)
BLOSUM score:

-3
Variant description:

In CF.
Other resources:

Variant rs121909009 [ dbSNP | Ensembl ]

Sequence information Variant position:

458
Protein sequence length:

1480
Location on the sequence:

TPVLKDINFKIERGQLLAVA G STGAGKTSLLMVIMGELEPS
Residue conservation:

Human                         TPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPS

Gorilla                       TPVLKDINFKIERGQLLAVAGSTGAGKTSLLMMIMGELEPS

                              TPVLKDINFKIERGQLLAVAGSTGAGKTSLLMMIMGELEPS

Rhesus macaque                TPVLKDINFKIERGQLLAVAGSTGAGKTSLLMMIMGELEPS

Chimpanzee                    TPVLKDINFKIERGQLLAVAGSTGAGKTSLLMMIMGELEPS

Mouse                         NPVLKNINLNIEKGEMLAITGSTGSGKTSLLMLILGELEAS

Rat                           NPVLKNINLNIKKGEMLAITGSTGAGKTSLLMLILGELEAS

Pig                           TPVLKDISFKIERGQLLAVAGSTGAGKTSLLMMIMGELEPS

Bovine                        TPVLKDISFKIERGQLLAVAGSTGAGKTSLLMMIMGELEPS

Rabbit                        APVLKDISFKIERGQLLAVAGSTGAGKTSLLMMIMGELEPS

Sheep                         TPVLKDISFKIERGQLLAVAGSTGAGKTSLLMMIMGELEPS

Horse                         TPVLKDISFKIERGQLLAVAGSTGAGKTSLLMMIMGELEPS

Xenopus laevis                APVLRNINFKIEKGQLLAIAGSTGAGKTSLLMMIMGELEPS

Zebrafish                     APVLKDISLKLKKGEMLAVTGSMGSGKSSLLMTILGELVPS

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 1480	Cystic fibrosis transmembrane conductance regulator
Topological domain	359 – 858	Cytoplasmic
Domain	423 – 646	ABC transporter 1
Binding site	458 – 465
Alternative sequence	404 – 464	Missing. In isoform 2.
Mutagenesis	464 – 464	K -> A. Decreases glutathione uptake.
Mutagenesis	464 – 464	K -> M. Impaired maturation of glycan chains indicating impaired trafficking from the endoplasmic reticulum to the cell membrane.

Literature citations
Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.
Cuppens H.; Marynen P.; De Boeck C.; Cassiman J.J.;
Genomics 18:693-697(1993)
Cited for: VARIANTS CF HIS-117; LYS-336; GLU-455; VAL-458; ARG-628; ARG-1235; ASN-1251 AND LYS-1303;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Gly458Val