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UniProtKB/Swiss-Prot P13569: Variant p.Met1137Val

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  1137
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Methionine (M) to Valine (V) at position 1137 (M1137V, p.Met1137Val).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In CF; decreases channel activity; no visible effect on protein maturation.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1137
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:   ISILTTGEGEGRVGIILTLA  M NIMSTLQWAVNSSIDVDSLM
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                         ISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLM

Gorilla                       ISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLM

                              ISILTTGEGEGTVGIILTLAMNIMGTLQWAVNSSIEVDSLM

Rhesus macaque                ISILTTGEGEGTVGIILTLAMNIMSTLQWAVNSSIDVDSLM

Chimpanzee                    ISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLM

Mouse                         ISILTTGEGEGTAGIILTLAMNIMSTLQWAVNSSIDTDSLM

Rat                           ISILTTGEGEGTTGIILTLAMNIMSTLQWAVNSSIDTDSLM

Pig                           ISILTTGEGEGTVGIILTLAMNIMSTLQWAVNSSIDVDSLM

Bovine                        ISILTTGEGEGRVGIILTLAMNIMGTLQWAVNSSIDVDSLM

Rabbit                        ISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLM

Sheep                         ISILTTGEGEGRVGIILTLAMNIMGTLQWAVNSSIDVDSLM

Horse                         ISILTTGEGEGTVGIILTLAMNIMSTLQWAVNSSIDVDSLM

Xenopus laevis                ISIATSGAGEEKVGIVLTLAMNIMNTLQWAVNASIDVDSLM

Zebrafish                     IAVGTNQDKPGEIGIIICLAMLILGTFQWCVATSIAVDGMM

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.

TypePositionsDescription
Chain 1 – 1480 Cystic fibrosis transmembrane conductance regulator
Transmembrane 1131 – 1151 Helical; Name=12
Domain 859 – 1155 ABC transmembrane type-1 2
Alternative sequence 606 – 1480 Missing. In isoform 3.
Mutagenesis 1137 – 1137 M -> R. Abolishes channel activity. Impairs protein maturation, suggesting the protein is retained in the endoplasmic reticulum.
Mutagenesis 1139 – 1139 I -> V. Decreases channel activity, no visible effect on protein maturation.
Mutagenesis 1154 – 1154 D -> G. Decreases channel activity, no visible effect on protein maturation.
Helix 1129 – 1167


Literature citations

Characterization of mutations located in exon 18 of the CFTR gene.
Vankeerberghen A.; Wei L.; Teng H.; Jaspers M.; Cassiman J.J.; Nilius B.; Cuppens H.;
FEBS Lett. 437:1-4(1998)
Cited for: CHARACTERIZATION OF VARIANTS CF VAL-1137; MET-1140 DEL AND HIS-1152; MUTAGENESIS OF MET-1137; ILE-1139 AND ASP-1154; SUBCELLULAR LOCATION; FUNCTION;

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.