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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Arg766Met

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 766 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Methionine (M) at position 766 (R766M, p.Arg766Met). 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: help Change from large size and basic (R) to medium size and hydrophobic (M) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In CBAVD; uncertain significance; no effect on glycan maturation; no effect on channel activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 766 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1480 The length of the canonical sequence.
Location on the sequence: help EAILPRISVISTGPTLQARR R QSVLNLMTHSVNQGQNIHRK 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         EAILPRISVI-STGPTLQARRRQSVLNLMTH-SVNQGQNIHRK

Gorilla                       EAILPRISVI-STGPTLQARRRQSVLNLMTH-SVNQGQNIH

                              EAILPRSNMI-NTGPTLRRQRRQSVLNLMTRSSVNQGQSIH

Rhesus macaque                EVILPRISVI-STGPTLQARRRQSVLNLMTH-SVNQGQSIH

Chimpanzee                    EAILPRISVI-STGPTLQARRRQSVLNLMTH-SVNQGQNIH

Mouse                         EAALPRSNMI-ATGPTFPGRRRQSVLDLMTF-TPNSGSSNL

Rat                           EAALPRSNMI-TAGPTFPGRRRQSVLDLMTF-TPSSVSSSL

Pig                           EAILPRSNVI-NAGPTFQGRRRQSVLNLMTRSSVNQGQSIH

Bovine                        EGILPRSNAV-NSGPTFLGGRRQSVLNLMTGSSVNQGQSIH

Rabbit                        EAILPRSNMI-NTGPMLQGCRRQSVLNLMTH-SVSQGPSIY

Sheep                         EGILPRSNAV-NSGPTFLGGRRQSVLNLMTCSSVNQGQSIH

Horse                         EAILPRSNVI-NTGPTFQRRRRQSVLNLMTRSSVNQGQSIH

Xenopus laevis                EASLPRSNFL-NTGPTFQGRRRQSVLNLMTRTSISQGSNAF

Zebrafish                     DESFMGSDVYHNHGVHMAGQRRQSVLAFMTN-AQGQGRREH

Sequence annotation in neighborhood: help 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
Topological domain 359 – 858 Cytoplasmic
Region 654 – 831 Disordered R region
Modified residue 753 – 753 Phosphoserine; by PKA
Modified residue 768 – 768 Phosphoserine; by PKA
Alternative sequence 606 – 1480 Missing. In isoform 3.



Literature citations
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
Vankeerberghen A.; Wei L.; Jaspers M.; Cassiman J.-J.; Nilius B.; Cuppens H.;
Hum. Mol. Genet. 7:1761-1769(1998)
Cited for: CHARACTERIZATION OF VARIANTS CF PHE-601; SER-610; THR-613; GLY-614; THR-618; SER-619; GLN-620; PRO-620; ARG-628; PRO-633; SER-665; LEU-693 AND LYS-822; CHARACTERIZATION OF VARIANTS CBAVD ASP-622; MET-766; GLY-792; GLY-800 AND MET-807; CHARACTERIZATION OF VARIANT THORACIC SARCOIDOSIS LYS-826;
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.