UniProtKB/Swiss-Prot P13569: Variant p.Gln1352His

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position:

1352 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Glutamine (Q) to Histidine (H) at position 1352 (Q1352H, p.Gln1352His). 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 CBAVD; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs113857788 [ dbSNP | Ensembl ]

Sequence information Variant position:

1352 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:

PGKLDFVLVDGGCVLSHGHK Q LMCLARSVLSKAKILLLDEP 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                         PGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEP

Gorilla                       PGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEP

                              PGKLDFVLVDGGYVLSHGHKQLMCLARSVLRKAKILLLDEP

Rhesus macaque                PGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEP

Chimpanzee                    PGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEP

Mouse                         PGQLNFTLVDGGYVLSHGHKQLMCLARSVLSKAKIILLDEP

Rat                           PGQLNFTLVDGGYVLSHGHKQLMCLARSVLSKAKIILLDEP

Pig                           PGKLDFVLVDGGCVLSHGHKQLMCLARSVLGKAKILLLDEP

Bovine                        PGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEP

Rabbit                        PGKLDFVLVDGGYVLSHGHKQLMCLARSVLSKAKILLLDEP

Sheep                         PGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEP

Horse                         PGKLDFVLVDGGNVLSHGHKQLICLARSVLSKAKILLLDEP

Xenopus laevis                PGQLDFVLLDGGCVLSHGHKQLVCLARSVLSKAKILLLDEP

Zebrafish                     PDKLDFQLEYGGYVLSNGHKQLICLARSILSGARILLLDEP

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.

Type	Positions	Description
Chain	1 – 1480	Cystic fibrosis transmembrane conductance regulator
Topological domain	1152 – 1480	Cytoplasmic
Domain	1210 – 1443	ABC transporter 2
Alternative sequence	606 – 1480	Missing. In isoform 3.
Helix	1348 – 1361

Literature citations
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.