Sequence information
Variant position: 42 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 249 The length of the canonical sequence.
Location on the sequence:
LGELIGTLNAAKVPADTEVV
C APPTAYIDFARQKLDPKIAV
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 LGELIGTLNAAKVP-ADTEVVC APPTAYIDFARQKLD-PKIAV
Gorilla LGELIGTLNAAKVP-ADTKVVC APPTAYIDFARQKLD-PKI
LGELITTLNAAKVP-ADTEVVC APPTAYIDFARQKLD-AKI
Rhesus macaque LGELIGTLNAAKVP-ADTEVVC APPTAYIDFARQKLD-PKI
Chimpanzee LGELIGTLNAAKVP-ADTEVVC APPTAYIDFARQKLD-PKI
Mouse LGELICTLNAANVP-AGTEVVC APPTAYIDFARQKLD-PKI
Rat LGELICTLNAAKLP-ADTEVVC APPTAYIDFARQKLD-PKI
Pig LGELINTLNAAKLP-ADTEVVC APPTAYIDFARQKLD-PKI
Bovine LGELINTLNAAKVP-ADTEVVC APPTAYIDFARQKLD-PKI
Rabbit LGELITTLNAAKVP-ADTEVVC APPTAYIDFARQKLD-PKI
Chicken LGELIHTLNGAKLS-ADTEVVC GAPSIYLDFARQKLD-AKI
Xenopus laevis LGELINTLNSGKMN-ADTEVVC GAPAIYLDFARQKLD-AKI
Xenopus tropicalis LTELINTLNSGKIS-ADTEVVC GAPTIYLDFARQKLD-AKF
Caenorhabditis elegans VDGIVTFLNASADN-SSVDVVV APPAPYLAYAKSKLK-AGV
Drosophila IAEIAKTLSSAALD-PNTEVVI GCPAIYLMYARNLLP-CEL
Slime mold LESLSKGMNESVENKENVDIFI APSYPYLEFLSNKLDNKKF
Baker's yeast IKEIVERLNTASIP-ENVEVVI CPPATYLDYSVSLVKKPQV
Fission yeast MKTIIEGLNTTKLNVGDVETVI FPQNMYLITTRQQVK-KDI
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
2 – 249
Triosephosphate isomerase
Alternative sequence
1 – 82
Missing. In isoform 3.
Beta strand
38 – 43
Literature citations
Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency.
Arya R.; Lalloz M.R.A.; Bellingham A.J.; Layton D.M.;
Hum. Mutat. 10:290-294(1997)
Cited for: VARIANTS TPID TYR-42; ASP-105 AND VAL-171;
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.