UniProtKB/Swiss-Prot P13569: Variant p.Ile556Val

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

556 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 Isoleucine (I) to Valine (V) at position 556 (I556V, p.Ile556Val). 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 hydrophobic. 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 CBAVD; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs75789129 [ dbSNP | Ensembl ]

Sequence information Variant position:

556 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:

KDNIVLGEGGITLSGGQRAR I SLARAVYKDADLYLLDSPFG 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                         KDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFG

Gorilla                       KDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFG

                              KDNIVLGEGGVTLSGGQRARISLARAVYKDADLYLLDSPFG

Rhesus macaque                KDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFG

Chimpanzee                    KDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFG

Mouse                         QDNTVLGEGGVTLSGGQRARISLARAVYKDADLYLLDSPFG

Rat                           QDNTVLGEGGVTLSGGQRARISLARAVYKDADLYLLDSPFG

Pig                           KDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFG

Bovine                        KDNVVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFG

Rabbit                        KDNTVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFG

Sheep                         KDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFG

Horse                         KDNIVLGEGGIQLSGGQRARISLARAVYKDADLYLLDSPFG

Xenopus laevis                KDNTVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFS

Zebrafish                     KDKTPMAEGGLNLSGGQKARVALARAVYRDADLYLLDAPFT

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
Modified residue	549 – 549	Phosphoserine
Mutagenesis	539 – 539	I -> T. Enhances trafficking from the endoplasmic reticulum to the cell membrane.
Helix	550 – 563

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.