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UniProtKB/Swiss-Prot P13569: Variant p.Tyr913Cys

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  913
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Tyrosine (Y) to Cysteine (C) at position 913 (Y913C, p.Tyr913Cys).
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 aromatic (Y) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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.

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



Sequence information

Variant position:  913
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:   GNSTHSRNNSYAVIITSTSS  Y YVFYIYVGVADTLLAMGFFR
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                         GNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFR

Gorilla                       GNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFR

                              GNSTQSVNSSYAVIFTSTSAYYIFYIYVGVADTLLALGLFR

Rhesus macaque                GNSTYSRNNSYAVIITRTSSYYVFYIYVGVADTLLAMGFFR

Chimpanzee                    GNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFR

Mouse                         NNGTKISNSSYVVIITSTSFYYIFYIYVGVADTLLALSLFR

Rat                           NNGTKIANTSYVVVITSSSFYYIFYIYVGVADTLLALSLFR

Pig                           GNSTKGANNSYAVIITSTSAYYVFYIYVGVADGLLALGLFR

Bovine                        GNSTKSANNSYAVIITSTSSYYIFYIYVGVADTLLALGLFR

Rabbit                        ENSTKSGNSSYAVIITNTSSYYFFYIYVGVADTLLALGLFR

Sheep                         GNSTKNASNSYAVIITSTSSYYIFYIYVGVADTLLALGLFR

Horse                         GNSTKGANNSYAVIITSTSSYYVFYIYVGVADTLLALGLFR

Xenopus laevis                NENVSEVSDTLSVIVTHTSFYYVFYIYVGVADSLLALGIFR

Zebrafish                     HSNASSSGQTYAITVTPTSSYYILYIYVATSESLLAMGFFR

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 880 – 918 Extracellular
Domain 859 – 1155 ABC transmembrane type-1 2
Glycosylation 894 – 894 N-linked (GlcNAc...) asparagine
Glycosylation 900 – 900 N-linked (GlcNAc...) asparagine
Alternative sequence 606 – 1480 Missing. In isoform 3.
Mutagenesis 894 – 894 N -> D. Abolishes N-glycosylation, enhances endocytosis and impairs subsequent recycling to the cell surface; when associated with D-900.
Mutagenesis 900 – 900 N -> D. Abolishes N-glycosylation, enhances endocytosis and impairs subsequent recycling to the cell surface; when associated with D-894.
Turn 912 – 914


Literature citations

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
Fanen P.; Ghanem N.; Vidaud M.; Besmond C.; Martin J.; Costes B.; Plassa F.; Goossens M.;
Genomics 13:770-776(1992)
Cited for: VARIANTS VAL-44; MET-470; VAL-506; CYS-508; ALA-576; CYS-668; PHE-997; THR-1027 AND LEU-1162; VARIANTS CF GLY-44; ARG-178; ARG-225; TRP-334; PHE-508 DEL; 542-GLY--LEU-1480 DEL; ASP-551; ILE-562; ARG-628; 710-LYS--LEU-1480 DEL; 846-TRP--LEU-1480 DEL; CYS-913; 1063-TRP--LEU-1480 DEL; CYS-1066; 1092-TYR--LEU-1480 DEL; 1162-ARG--LEU-1480 DEL; GLU-1200; 1282-TRP--LEU-1480 DEL AND LYS-1303;

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.