UniProtKB/SwissProt variant VAR

Variant information

Variant position:

110

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 Histidine (H) at position 110 (D110H, p.Asp110His).

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 polar (H)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-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:

In CF and CBAVD.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs113993958 [ dbSNP | Ensembl ]

Sequence information

Variant position:

110

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:

LGEVTKAVQPLLLGRIIASY D PDNKEERSIAIYLGIGLCLL

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                         LGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLL

Gorilla                       LGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLL

Rhesus macaque                LGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLL

Chimpanzee                    LGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLL

Mouse                         LGEVTKAVQPVLLGRIIASYDPENKVERSIAIYLGIGLCLL

Rat                           LGEVTKAVQPVLLGRIIASYDPDNTEERSIAIYLGIGLCLL

Pig                           LGEVTKAVQPLLLGRIIASYDPDNKAERSIAIYLGVGLCLL

Bovine                        LGEVTKAVQPLLLGRIIASYDPDNKVERSIAIYLGIGLCLL

Rabbit                        LGEVTKAVQPLLLGRIIASYDPDNKVERSIAIYLGIGLCLL

Sheep                         LGEVTKAVQPLLLGRIIASYDPDNKVERSIAIYLGIGLCLL

Horse                         LGEVTKAVQPLLLGRIIASYDPDNEAERSIAIYLGIGLCLL

Xenopus laevis                LGEVTKAVQPLLLGRIIASYDRDNEHERSIAYYLAIGLCLL

Zebrafish                     IGEATKTVQPQLLGRIIASFDPAHEPERANGYFLAFGLGLL

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	99 – 122	Extracellular
Domain	81 – 365	ABC transmembrane type-1 1

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Asp110His