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UniProtKB/Swiss-Prot P13569: Variant p.Asp648Val

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  648
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 Aspartate (D) to Valine (V) at position 648 (D648V, p.Asp648Val).
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 medium size and acidic (D) 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 CF; decrease in bicarbonate transport; no effect chloride channel activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  648
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:   GTFSELQNLQPDFSSKLMGC  D SFDQFSAERRNSILTETLHR
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                         GTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHR

Gorilla                       GTFSELQNLRPDFSSKLMGCDSFDQFSAERRNSILTETLRR

                              GTFSELQSLRPDFSSKLMGYDSFDQFSPERRNSIITETLRR

Rhesus macaque                GTFSELQNLRPDFSSKLMGYDSFDQFSAERRNSILTETLRR

Chimpanzee                    GTFSELQNLRPDFSSKLMGCDSFDQFSAERRNSILTETLRR

Mouse                         GTFSELQSLRPDFSSKLMGYDTFDQFTEERRSSILTETLRR

Rat                           GTFSELQSLRPDFSSKLMGYDTFDQFTEERRSSILTETLRR

Pig                           GTFSELQSQRPDFSSKLMGYDTFDQFTAERRNSIITETLRR

Bovine                        GTFSELQNQRPDFSSKLMGCDTFDQFTAERRNSIITETLRR

Rabbit                        GTFSELQSLRPDFSSKLMGYDSFDQFSAERRNSILTETLRR

Sheep                         GTFSELQNQRPDFSSKLMGCDTFDQFTAERRNSIITETLRR

Horse                         GTFSELQNLRPDFSSKLMGYDSFDQFSAERRNSILTETLRR

Xenopus laevis                GTFSELEDQRPEFSSHLIG---FDHFNAERRNSIITETLRR

Zebrafish                     GTFPELQSERPDFSSLLLGLEAYDNISAERRCSILTETLHR

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
Modified residue 660 – 660 Phosphoserine; by PKA
Alternative sequence 606 – 1480 Missing. In isoform 3.


Literature citations

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.