Variant position: 30 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 IVPILIAMAFLMLTERKILG YMQLRKGPNVVGPYGLLQPFA
Gorilla IVPILIAMAFLMLTERKILG YMQLRKGPNVVGPYGLLQPFA
Chimpanzee IVPILIAMAFLMLTERKILG YMQLRKGPNIVGPYGLLQPFA
Mouse LVPILIAMAFLTLVERKILG YMQLRKGPNIVGPYGILQPFA
Rat LIPILIAMAFLTLVERKILG YMQLRKGPNIVGPYGILQPFA
Pig IIPILLAVAFLTLVERKVLG YMQLRKGPNVVGPYGLLQPIA
Bovine IIPILLAVAFLTLVERKVLG YMQLRKGPNVVGPYGLLQPIA
Rabbit ILPVLLAMAFLTLVERKILG YMQLRKGPNIVGPYGLLQPIA
Sheep IIPILLAVAFLTLVERKVLG YMQFRKGPNVVGPYGLLQPIA
Cat IIPILLAVAFLTLVERKVLG YMQLRKGPNVVGPYGLLQPIA
Horse IVPILLAVAFLTLVERKVLG YMQLRKGPNIVGPYGLLQPIA
Chicken ILPILIAVAFLTLVERKILS YMQARKGPNIVGPFGLLQPVA
Xenopus laevis MIPILLAVAFLTLIERKVLG YMQHRKGPNIVGPTGLIQPIA
Zebrafish AVPVLIAVAFLTLVERKVLG YMQLRKGPNVMGPRGLLQSVA
Caenorhabditis elegans MIFIVQSIAFITLYERHLLG SSQNRLGPTKVTFMGLAQALL
Drosophila IICVLVSVAFLTLLERKVLG YIQIRKGPNKVGLMGIPQPFC
Slime mold IIGLLIGVAFATLLERKVMA AMQKRRGPNVVGFVGLLQPLA
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
A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.
Chamkha I.; Mkaouar-Rebai E.; Aloulou H.; Chabchoub I.; Kifagi C.; Fendri-Kriaa N.; Kammoun T.; Hachicha M.; Fakhfakh F.;
Biochem. Biophys. Res. Commun. 404:504-510(2011)
Cited for: VARIANT CYS-30;
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.