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UniProtKB/Swiss-Prot P13569: Variant p.Arg766Met

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  766
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  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:  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:  -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

Involvement in disease:  Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]: Important cause of sterility in men and could represent an incomplete form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas deferens. {ECO:0000269|PubMed:10651488, ECO:0000269|PubMed:17329263, ECO:0000269|PubMed:7529962, ECO:0000269|PubMed:7539342, ECO:0000269|PubMed:9067761, ECO:0000269|PubMed:9736778, ECO:0000269|Ref.113}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CBAVD.
Any additional useful information about the variant.

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



Sequence information

Variant position:  766
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:   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: 
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:  
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 Intrinsically 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

No reference for the current variant in UniProtKB/Swiss-Prot.

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.