UniProtKB/Swiss-Prot Q5BJD5: Variant p.Ile266Val

Transmembrane protein 41B
Gene: TMEM41B
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Variant information Variant position:

266 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 266 (I266V, p.Ile266Val). 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:

Reduced infection with Yellow fever virus, Zika virus and Dengue virus; no effect on mobilization of neutral lipids from lipid droplets. Any additional useful information about the variant.

Sequence information Variant position:

266 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

291 The length of the canonical sequence.
Location on the sequence:

KAGTTLYQLTTAGEAVSWNS I FILMILAVLSILPAIFQKKL 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                         KAGTTLYQLTTAGEAVSWNSIFILMILAVLSILPAIFQKKL

Mouse                         KAGTTLHQLTTAGEAVSWSSVFILMVLALLSILPAIFQKQL

Rat                           KAGTTLYQLTTAGEAVSWNSVFILMILALLSILPAIFQKKL

Chicken                       KAGTTLYQLTTAGEAVSWNSLFVLMILAILSILPALFQKKL

Xenopus laevis                KAGTTLYQLTTAGEAVSWNSVIILMVLAVLSILPAIFQKKL

Xenopus tropicalis            KAGTTLYQLTTAGEAVSWNSVIILMVLAVLSILPAIFQKKL

Zebrafish                     NAGTTLYKLTTAGEAVSWNSLLVLGVLAVVSILPVCFQKKL

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 – 291	Transmembrane protein 41B
Transmembrane	262 – 282	Helical
Alternative sequence	128 – 291	Missing. In isoform 3.
Alternative sequence	193 – 291	Missing. In isoform 2.

Literature citations
TMEM41B Is a Pan-flavivirus Host Factor.
Hoffmann H.H.; Schneider W.M.; Rozen-Gagnon K.; Miles L.A.; Schuster F.; Razooky B.; Jacobson E.; Wu X.; Yi S.; Rudin C.M.; MacDonald M.R.; McMullan L.K.; Poirier J.T.; Rice C.M.;
Cell 0:0-0(2020)
Cited for: FUNCTION (MICROBIAL INFECTION); DOMAIN (MICROBIAL INFECTION); CHARACTERIZATION OF VARIANTS LEU-266 AND VAL-266; SUBCELLULAR LOCATION; INTERACTION WITH ZIKA VIRUS NS4A PROTEIN AND YELLOW FEVER VIRUS NS4B PROTEIN (MICROBIAL INFECTION);

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.