UniProtKB/Swiss-Prot P13569: Variant p.Gly551Ser

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

Variant position:  551
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 Serine (S) at position 551 (G551S, p.Gly551Ser).
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 small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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.
Any additional useful information about the variant.



Sequence information

Variant position:  551
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:   SKFAEKDNIVLGEGGITLSG  G QRARISLARAVYKDADLYLL
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                         SKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLL

Gorilla                       SKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLL

Rhesus macaque                SKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLL

Chimpanzee                    SKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLL

Mouse                         TKFAEQDNTVLGEGGVTLSGGQRARISLARAVYKDADLYLL

Rat                           TKFAEQDNTVLGEGGVTLSGGQRARISLARAVYKDADLYLL

Pig                           SKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLL

Bovine                        SKFAEKDNVVLGEGGITLSGGQRARISLARAVYKDADLYLL

Rabbit                        SKFTEKDNTVLGEGGITLSGGQRARISLARAVYKDADLYLL

Sheep                         SKFSEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLL

Dog                           SKFAEKDNIVLGEGGVTLSGGQRARISLARAVYKDADLYLL

Horse                         SKFAEKDNIVLGEGGIQLSGGQRARISLARAVYKDADLYLL

Xenopus laevis                SKFPEKDNTVLGEGGITLSGGQRARISLARAVYKDADLYLL

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
Helix 550 – 563


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.