UniProtKB/Swiss-Prot P13569: Variant p.Val754Met

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

754 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Valine (V) to Methionine (M) at position 754 (V754M, p.Val754Met). 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; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs150157202 [ dbSNP | Ensembl ]

Sequence information Variant position:

754 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:

RRLSLVPDSEQGEAILPRIS V ISTGPTLQARRRQSVLNLMT 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                         RRLSLVPDSEQGEAILPRISVI-STGPTLQARRRQSVLNLMT

Gorilla                       RRLSLVPDSEQGEAILPRISVI-STGPTLQARRRQSVLNLM

                              RRLSLFPDCEQGEAILPRSNMI-NTGPTLRRQRRQSVLNLM

Rhesus macaque                RRLSLVPDSEQGEVILPRISVI-STGPTLQARRRQSVLNLM

Chimpanzee                    RRLSLVPDSEQGEAILPRISVI-STGPTLQARRRQSVLNLM

Mouse                         KRLSLVPDSEQGEAALPRSNMI-ATGPTFPGRRRQSVLDLM

Rat                           RRLSLVPDSEHGEAALPRSNMI-TAGPTFPGRRRQSVLDLM

Pig                           RRLSLVPDSEHGEAILPRSNVI-NAGPTFQGRRRQSVLNLM

Bovine                        RRLSLVPHSEPGEGILPRSNAV-NSGPTFLGGRRQSVLNLM

Rabbit                        RRLSLVPDSEQGEAILPRSNMI-NTGPMLQGCRRQSVLNLM

Sheep                         RRLSLVPHSEPGEGILPRSNAV-NSGPTFLGGRRQSVLNLM

Horse                         RRLSLVPDSEQGEAILPRSNVI-NTGPTFQRRRRQSVLNLM

Xenopus laevis                RKLSLVPESEQGEASLPRSNFL-NTGPTFQGRRRQSVLNLM

Zebrafish                     RKFSLVPENELVDESFMGSDVYHNHGVHMAGQRRQSVLAFM

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	359 – 858	Cytoplasmic
Region	654 – 831	Disordered R region
Modified residue	737 – 737	Phosphoserine; by PKA
Modified residue	753 – 753	Phosphoserine; by PKA
Modified residue	768 – 768	Phosphoserine; by PKA
Alternative sequence	606 – 1480	Missing. In isoform 3.

Literature citations
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease.
Bombieri C.; Benetazzo M.; Saccomani A.; Belpinati F.; Gile L.S.; Luisetti M.; Pignatti P.F.;
Hum. Genet. 103:718-722(1998)
Cited for: VARIANTS CYS-31; GLN-75; VAL-506 AND CYS-668; VARIANTS CF CYS-301; ASN-651; MET-754 AND LEU-1072;

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.