UniProtKB/SwissProt variant VAR

Variant information

Variant position:

619

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 Leucine (L) to Serine (S) at position 619 (L619S, p.Leu619Ser).

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 hydrophobic (L) to small size and polar (S)

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

BLOSUM score:

-2

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; impaired maturation of glycan chains.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs397508313 [ dbSNP | Ensembl ]

Sequence information

Variant position:

619

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:

TRILVTSKMEHLKKADKILI L HEGSSYFYGTFSELQNLQPD

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                         TRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPD

Gorilla                       TRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLRPD

                              TRILVTSKMEHLKKADKVLILHEGSCYFYGTFSELQSLRPD

Rhesus macaque                TRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLRPD

Chimpanzee                    TRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLRPD

Mouse                         TRILVTSKMEHLRKADKILILHQGSSYFYGTFSELQSLRPD

Rat                           TRILVTSKMEQLKKADKILILHEGSSYFYGTFSELQSLRPD

Pig                           TRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQSQRPD

Bovine                        TRILVTSKMEHLKKADKILILHEGSIYFYGTFSELQNQRPD

Rabbit                        TRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQSLRPD

Sheep                         TRILVTSKMEHLKKADKILILHEGSVYFYGTFSELQNQRPD

Horse                         TRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLRPD

Xenopus laevis                TRILVTSKVEQLKKADKVLILHEGSCYFYGTFSELEDQRPE

Zebrafish                     TRILVTNKIEHLKRADKILLLHNGESFFYGTFPELQSERPD

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	359 – 858	Cytoplasmic
Domain	423 – 646	ABC transporter 1
Alternative sequence	606 – 1480	Missing. In isoform 3.
Beta strand	614 – 620

Literature citations

Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.
Doerk T.; Mekus F.; Schmidt K.; Bosshammer J.; Fislage R.; Heuer T.; Dziadek V.; Neumann T.; Kaelin N.; Wulbrand U.; Wulf B.; von der Hardt H.; Maass G.; Tuemmler B.;
Hum. Genet. 94:533-542(1994)
Cited for: VARIANTS CF TYR-199; SER-619; ARG-1005 AND ARG-1291;

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Leu619Ser