Sequence information
Variant position: 726 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1259 The length of the canonical sequence.
Location on the sequence:
QESSSSLEMPSGVALEEGAH
V LRCSHVTLEPGANQITFRTQ
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 QESSSSLEMPSGVALEEGAHV LRCSHVTLEPGANQITFRTQ
Mouse QESGSSLEPPSGLALEDGAHV LRCSSVTLQPGANKIAFKTQ
Drosophila TSSTKRKLSPS--VQADFTNF VQAENIALQPGVNLIEMKAK
Slime mold DSIWLKIDNLS------FGYS LRNADTAIGGGGGGTN-TTT
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 – 1259
Trafficking protein particle complex subunit 10
Modified residue
708 – 708
Phosphoserine
Alternative sequence
277 – 1259
Missing. In isoform 2.
Literature citations
Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3.
Lafreniere R.G.; Kibar Z.; Rochefort D.L.; Han F.-Y.; Fon E.A.; Dube M.-P.; Kang X.; Baird S.; Korneluk R.G.; Rommens J.M.; Rouleau G.A.;
Gene 198:313-321(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANTS GLU-257; MET-633 AND MET-726;
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.