UniProtKB/Swiss-Prot P13569: Variant p.Tyr903His

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Feedback?

Variant information Variant position:

903 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 Tyrosine (Y) to Histidine (H) at position 903 (Y903H, p.Tyr903His). 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 large size and aromatic (Y) to medium size and polar (H) 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
Other resources:

Links to websites of interest for the variant.

Variant rs1800106 [ dbSNP | Ensembl ]

Sequence information Variant position:

903 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:

LLGNTPLQDKGNSTHSRNNS Y AVIITSTSSYYVFYIYVGVA 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                         LL----------GNTPLQD--KGNSTHSRNNSYAVIITSTSSYYVFYIYVGVA

Gorilla                       LL----------GNTPLQD--KGNSTHSRNNSYAVIITSTS

                              IL----------RNLSSQD--KGNSTQSVNSSYAVIFTSTS

Rhesus macaque                FL----------GNTPPQD--KGNSTYSRNNSYAVIITRTS

Chimpanzee                    LL----------GNTPLQD--KGNSTHSRNNSYAVIITSTS

Mouse                         LL----------KNNPVNS--GNNGTKISNSSYVVIITSTS

Rat                           LL----------KNNPVNG--GNNGTKIANTSYVVVITSSS

Pig                           LL----------KKTSPQD--KGNSTKGANNSYAVIITSTS

Bovine                        LF----------PKIFFQD--KGNSTKSANNSYAVIITSTS

Rabbit                        LF----------GNTAPQD--KENSTKSGNSSYAVIITNTS

Sheep                         LF----------PKILLQD--KGNSTKNASNSYAVIITSTS

Horse                         LL----------KETPPQD--SGNSTKGANNSYAVIITSTS

Xenopus laevis                II---------KRNAPAINMTSNENVSEVSDTLSVIVTHTS

Zebrafish                     LITDELWREEHQRSEPNMT--KHSNASSSGQTYAITVTPTS

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	880 – 918	Extracellular
Domain	859 – 1155	ABC transmembrane type-1 2
Glycosylation	894 – 894	N-linked (GlcNAc...) asparagine
Glycosylation	900 – 900	N-linked (GlcNAc...) asparagine
Alternative sequence	606 – 1480	Missing. In isoform 3.
Mutagenesis	894 – 894	N -> D. Abolishes N-glycosylation, enhances endocytosis and impairs subsequent recycling to the cell surface; when associated with D-900.
Mutagenesis	900 – 900	N -> D. Abolishes N-glycosylation, enhances endocytosis and impairs subsequent recycling to the cell surface; when associated with D-894.

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.