Variant position: 255 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 318 The length of the canonical sequence.
Location on the sequence:
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 NTLT-TTIFLGTTYDALSPEL YTTYFVTKTLLLTSLFLWIRT
Gorilla NTLT-TMIFLGTTYNAHSPEL YTVCFITKTLLLTSLFLWIR
Chimpanzee NTLT-ATIFLGATYNTHSPEL YTTYFVTKALLLTSLFLWIR
Mouse NALT-TIIFLGPLYYINLPEL YSTNFMMEALLLSSTFLWIR
Rat NALT-SIVFLGPLYHINYPEL YSTSFMTETLLLSTTFLWIR
Pig NAFT-AILFLGASHDPHTPEL YTINFVLKTLALTITFLWIR
Bovine NIFT-AILFLGTSHNPHMPEL YTINFTIKSLLLTMSFLWIR
Rabbit NALT-AILFLGSFHSHTNPEM FTVNFATKTLLLTMTFLWIR
Sheep NIFT-TTLFLGAFHNPYMPEL YTINFTIKSLLLSITFLWIR
Cat NILT-TILFFGAFHSPYMPEL YTINFTVKTLLLTTTFLWIR
Horse NIFT-TTLFLGAFHNPYLPEL YSINFTIKALLLTCSFLWIR
Chicken NTLT-TVLFLNPSFLNLPPEL FPIALATKTLLLSSSFLWIR
Xenopus laevis NTLSYLILFLGSSF-MNQPEL TTISLMIKSSILSMIFLWVR
Zebrafish NTHS-TVLFLGASFTPDAPEL MTISIATKTAMLSILFLWMR
Caenorhabditis elegans SVLS-SAMFFK---------- FSIFMAFSIFSL---LIFIR
Drosophila SMLF-CVIFLGC-------DV FNLLFYMKLTFISFVFIWVR
Slime mold SVLL-SVFFLGGIVSN----- -KILGAMKGVGMLCSFIWVR
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
1 – 318 NADH-ubiquinone oxidoreductase chain 1
253 – 273 Helical
Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.
Marzuki S.; Noer A.S.; Lertrit P.; Thyagarajan D.; Kapsa R.; Utthanaphol P.; Byrne E.;
Hum. Genet. 88:139-145(1991)
Cited for: VARIANTS PRO-205; CYS-255 AND PRO-288;
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.