UniProtKB/Swiss-Prot P13569: Variant p.Ile506Met

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

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

LB/B 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 Methionine (M) at position 506 (I506M, p.Ile506Met). 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:

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
Other resources:

Links to websites of interest for the variant.

Variant rs1800092 [ dbSNP | Ensembl ]

Sequence information Variant position:

506 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:

GRISFCSQFSWIMPGTIKEN I IFGVSYDEYRYRSVIKACQL 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                         GRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQL

Gorilla                       GRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQL

                              GRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQL

Rhesus macaque                GRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVINACQL

Chimpanzee                    GRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQL

Mouse                         GRVSFCSQFSWIMPGTIKENIIFGVSYDEYRYKSVVKACQL

Rat                           GRVSFSSQISWIMPGTIKENIIFGVSYDEYRYKSVVKACQL

Pig                           GRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQL

Bovine                        GRISFCSQYSWIMPGTIKDNIIFGVSYDEYRYRSVIKACQL

Rabbit                        GRISFCSQFSWIMPGTIKENIIFGVSYDEYRYKSVIKACQL

Sheep                         GRISFCSQYSWIMPGTIKDNIIFGVSYDEYRYRSVIKACQL

Horse                         GRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQL

Xenopus laevis                GRISFSPQVSWIMPGTIKENIVFGVSYDQYRYLSVIKACQL

Zebrafish                     GRISYSSQTAWIMPGTIRDNILFGLTYDEYRYKSVVKACQL

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
Binding site	493 – 493
Lipidation	524 – 524	S-palmitoyl cysteine
Mutagenesis	508 – 508	F -> R. Impaired maturation of glycan chains indicating impaired trafficking from the endoplasmic reticulum to the cell membrane.
Mutagenesis	508 – 508	Missing. Abolishes MARCHF2-mediated degradation.
Helix	502 – 507

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.