Due to scheduled maintenance work, this service will not be available from Tuesday August 23rd 06:00 pm until Wednesday August 24th 08:00 am
CEST . Apologies for the inconvenience.
UniProtKB/Swiss-Prot P49755 : Variant p.Ser64Tyr
Transmembrane emp24 domain-containing protein 10
Gene: TMED10
Variant information
Variant position: 64 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/BThe 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 Serine (S) to Tyrosine (Y) at position 64 (S64Y, p.Ser64Tyr).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 small size and polar (S) to large size and aromatic (Y)The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -2The 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.
Sequence information
Variant position: 64 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 219 The length of the canonical sequence.
Location on the sequence:
LREEIHKDLLVTGAYEISDQ
S GGAGGLRSHLKITDSAGHIL
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 LREEIHKDLLVTGAYEISDQS GGAG-GLRSHLKITDSAGHIL
Mouse LREEIHKDLLVTGAYEITDQS GGAG-GLRTHLKITDSAGHI
Rat LREEIHKDLLVTGAYEITDQS GGAG-GLRTHLKITDSAGHI
Bovine LREEIHKDLLVTGAYEITDQS GGAG-GLRTHLKITDSAGHI
Rabbit LREEIHKDLLVTGAYEITDQS GGAG-GLRTHLKITDSAGHI
Drosophila LKEDIQANQLVMGEFEVSDVP GQI-----IDYIARDTKGHI
Slime mold IYEEIGVDLSFTAMFQVIQ-- GGFND---IDFTIISPDKRI
Baker's yeast IRDFVTEGQLVVADIH-SD-- GSVGDGQKLNLFVRDSVGNE
Fission yeast LREYVGEKNLVIVNLK-TT-- GNMGDGQTLSMMITDSSGNT
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
32 – 219
Transmembrane emp24 domain-containing protein 10
Topological domain
32 – 185
Lumenal
Domain
41 – 193
GOLD
Region
1 – 142
Required for interaction with STX17
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.