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UniProtKB/Swiss-Prot P13569: Variant p.His620Gln

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  620
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 Histidine (H) to Glutamine (Q) at position 620 (H620Q, p.His620Gln).
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:  Similar physico-chemical property. Both residues are medium size and polar.
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; strong decrease in bicarbonate transport; increase in chloride channel activity in vitro; no effect on glycan maturation.
Any additional useful information about the variant.

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



Sequence information

Variant position:  620
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:   RILVTSKMEHLKKADKILIL  H EGSSYFYGTFSELQNLQPDF
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                         RILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDF

Gorilla                       RILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLRPDF

                              RILVTSKMEHLKKADKVLILHEGSCYFYGTFSELQSLRPDF

Rhesus macaque                RILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLRPDF

Chimpanzee                    RILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLRPDF

Mouse                         RILVTSKMEHLRKADKILILHQGSSYFYGTFSELQSLRPDF

Rat                           RILVTSKMEQLKKADKILILHEGSSYFYGTFSELQSLRPDF

Pig                           RILVTSKMEHLKKADKILILHEGSSYFYGTFSELQSQRPDF

Bovine                        RILVTSKMEHLKKADKILILHEGSIYFYGTFSELQNQRPDF

Rabbit                        RILVTSKMEHLKKADKILILHEGSSYFYGTFSELQSLRPDF

Sheep                         RILVTSKMEHLKKADKILILHEGSVYFYGTFSELQNQRPDF

Horse                         RILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLRPDF

Xenopus laevis                RILVTSKVEQLKKADKVLILHEGSCYFYGTFSELEDQRPEF

Zebrafish                     RILVTNKIEHLKRADKILLLHNGESFFYGTFPELQSERPDF

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
Domain 423 – 646 ABC transporter 1
Alternative sequence 606 – 1480 Missing. In isoform 3.
Beta strand 614 – 620


Literature citations

Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
Vankeerberghen A.; Wei L.; Jaspers M.; Cassiman J.-J.; Nilius B.; Cuppens H.;
Hum. Mol. Genet. 7:1761-1769(1998)
Cited for: CHARACTERIZATION OF VARIANTS CF PHE-601; SER-610; THR-613; GLY-614; THR-618; SER-619; GLN-620; PRO-620; ARG-628; PRO-633 AND SER-665; CHARACTERIZATION OF VARIANTS CBAVD ASP-622; GLY-792 AND GLY-800; CHARACTERIZATION OF VARIANT THORACIC SARCOIDOSIS LYS-828;

Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.
Choi J.Y.; Muallem D.; Kiselyov K.; Lee M.G.; Thomas P.J.; Muallem S.;
Nature 410:94-97(2001)
Cited for: CHARACTERIZATION OF VARIANTS CF HIS-117; THR-148; ARG-178; LYS-193; ASP-551; SER-551; GLN-620; VAL-648; GLY-800; TYR-949; THR-1067; GLN-1070; GLU-1244; PRO-1255 AND ASP-1349;

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.