UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1061

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 Glycine (G) to Arginine (R) at position 1061 (G1061R, p.Gly1061Arg).

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 glycine (G) to large size and basic (R)

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.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs142394380 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1061

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:

KQLESEGRSPIFTHLVTSLK G LWTLRAFGRQPYFETLFHKA

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                         KQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKA

Gorilla                       KQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKA

                              KQLESEGRSPIFTHLLTSLKGLWTLRAFGRQPYFETLFHKA

Rhesus macaque                KQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKA

Chimpanzee                    KQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKA

Mouse                         KQLESEGRSPIFTHLVTSLKGLWTLRAFRRQTYFETLFHKA

Rat                           KQLESEGRSPIFTHLVTSLKGLWTLRAFRRQTYFETLFHKA

Pig                           KQLESEGRSPIFTHLITSLKGLWTLRAFGRQPYFETLFHKA

Bovine                        KQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKA

Rabbit                        KQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKA

Sheep                         KQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKA

Horse                         KQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKA

Xenopus laevis                KQLESKARSPIFAHLITSLKGLWTLRAFGRQPYFETLFHKA

Zebrafish                     KQLETEARSPIFSHLIMSLKGLWTIRAFERQAYFEALFHKT

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	1035 – 1095	Cytoplasmic
Domain	859 – 1155	ABC transmembrane type-1 2
Alternative sequence	606 – 1480	Missing. In isoform 3.

Literature citations

Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.
Mercier B.; Lissens W.; Novelli G.; Kalaydjieva L.; De Arce M.; Kapranov N.; Klain N.C.; Lenoir G.; Chauveau P.; Lenaerts C.; Rault G.; Cashman S.; Sangiuolo F.; Audrezet M.-P.; Dallapiccola B.; Guillermit H.; Bonduelle M.; Liebaers I.; Quere I.; Verlingue C.; Ferec C.;
Genomics 16:296-297(1993)
Cited for: VARIANTS CF VAL-1052; ARG-1061; LEU-1066; GLN-1070; ARG-1085 AND ARG-1101;

Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients.
Bienvenu T.; Chertkoff L.; Beldjord C.; Segal E.; Carniglia L.; Barreiro C.; Kaplan J.-C.;
Hum. Mutat. 7:376-377(1996)
Cited for: VARIANT CF ARG-1061;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Gly1061Arg