UniProtKB/Swiss-Prot P13569: Variant p.Gly544Val

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Chromosomal location: 7q31.2
Variant information

Variant position:  544
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 have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Glycine (G) to Valine (V) at position 544 (G544V, p.Gly544Val).
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 glycine (G) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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 CBAVD.
Any additional useful information about the variant.



Sequence information

Variant position:  544
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:   CQLEEDISKFAEKDNIVLGE  G GITLSGGQRARISLARAVYK
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                         CQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYK

Gorilla                       CQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYK

Rhesus macaque                CQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYK

Chimpanzee                    CQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYK

Mouse                         CQLQQDITKFAEQDNTVLGEGGVTLSGGQRARISLARAVYK

Rat                           CQLQEDITKFAEQDNTVLGEGGVTLSGGQRARISLARAVYK

Pig                           CQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYK

Bovine                        CQLEEDISKFAEKDNVVLGEGGITLSGGQRARISLARAVYK

Rabbit                        CQLEEDISKFTEKDNTVLGEGGITLSGGQRARISLARAVYK

Sheep                         CQLEEDISKFSEKDNIVLGEGGITLSGGQRARISLARAVYK

Dog                           CQLEEDISKFAEKDNIVLGEGGVTLSGGQRARISLARAVYK

Horse                         CQLEEDISKFAEKDNIVLGEGGIQLSGGQRARISLARAVYK

Xenopus laevis                CQLEEDISKFPEKDNTVLGEGGITLSGGQRARISLARAVYK

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 351 – 859 Cytoplasmic
Domain 423 – 646 ABC transporter 1
Modified residue 549 – 549 Phosphoserine
Lipidation 524 – 524 S-palmitoyl cysteine


Literature citations

Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations.
de Meeus A.; Guittard C.; Desgeorges M.; Carles S.; Demaille J.; Claustres M.;
Cited for: VARIANTS CBAVD LEU-111; LYS-244; VAL-544 AND VAL-1364;

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.