Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Asp1152His

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Feedback?
Variant information Variant position: help 1152 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Aspartate (D) to Histidine (H) at position 1152 (D1152H, p.Asp1152His). 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 medium size and acidic (D) to medium size and polar (H) 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 CF and CBAVD; decreases channel activity; no visible effect on protein maturation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1152 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 ILTLAMNIMSTLQWAVNSSI D VDSLMRSVSRVFKFIDMPTE 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                         ILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTE-

Gorilla                       ILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTE

                              ILTLAMNIMGTLQWAVNSSIEVDSLMRSVSRVFKFIDMPTE

Rhesus macaque                ILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTE

Chimpanzee                    ILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTE

Mouse                         ILTLAMNIMSTLQWAVNSSIDTDSLMRSVSRVFKFIDIQTE

Rat                           ILTLAMNIMSTLQWAVNSSIDTDSLMRSVSRVFKFIDIQTE

Pig                           ILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPAE

Bovine                        ILTLAMNIMGTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTE

Rabbit                        ILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTE

Sheep                         ILTLAMNIMGTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTE

Horse                         ILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTE

Xenopus laevis                VLTLAMNIMNTLQWAVNASIDVDSLMRSVSRIFRFIDLPVE

Zebrafish                     IICLAMLILGTFQWCVATSIAVDGMMRSVDRVFKFIDLPSE
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 1152 – 1480 Cytoplasmic
Domain 859 – 1155 ABC transmembrane type-1 2
Alternative sequence 606 – 1480 Missing. In isoform 3.
Mutagenesis 1137 – 1137 M -> R. Abolishes channel activity. Impairs protein maturation, suggesting the protein is retained in the endoplasmic reticulum.
Mutagenesis 1139 – 1139 I -> V. Decreases channel activity, no visible effect on protein maturation.
Mutagenesis 1154 – 1154 D -> G. Decreases channel activity, no visible effect on protein maturation.
Helix 1140 – 1167



Literature citations
Characterization of mutations located in exon 18 of the CFTR gene.
Vankeerberghen A.; Wei L.; Teng H.; Jaspers M.; Cassiman J.J.; Nilius B.; Cuppens H.;
FEBS Lett. 437:1-4(1998)
Cited for: CHARACTERIZATION OF VARIANTS CF VAL-1137; MET-1140 DEL AND HIS-1152; MUTAGENESIS OF MET-1137; ILE-1139 AND ASP-1154; SUBCELLULAR LOCATION; FUNCTION; TRANSPORTER ACTIVITY; Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
Ratbi I.; Legendre M.; Niel F.; Martin J.; Soufir J.C.; Izard V.; Costes B.; Costa C.; Goossens M.; Girodon E.;
Hum. Reprod. 22:1285-1291(2007)
Cited for: VARIANTS GLN-75 AND MET-470; VARIANTS CBAVD TRP-74; HIS-110; HIS-117; HIS-170; TRP-206; ASP-232; TRP-334; TYR-443; PHE-508 DEL; VAL-556; ILE-562; ALA-576; ASP-622; CYS-668; GLY-938; ILE-952; VAL-959; PHE-977; PHE-997; CYS-1032; ARG-1069; HIS-1152; GLU-1153; ASN-1270; 1282-TRP--LEU-1480 DEL; HIS-1352 AND 1473-GLU--LEU-1480 DEL;
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.