Variant position: 76 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 333 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 GTDH-------YCLELLRKRDYEGYLC SLLLPAES-RSSVFALRAFNVE
Mouse GSHL-------YCLELLRKRDYESYLC SLLFPAEC-QRSAS
Rat DSHL-------YCLELLRKRDYESYLC SLLFPAEC-QRSAS
Bovine GTDR-------YCLELLRKRDYEGYLC SLLLPAES-RSSAF
Drosophila ---K-------HCMSLVEKYDYENYLC TLLLPREL-RRAAF
Slime mold VSDLAGNADYNFVFERIKTCDKENYIN SLLISDPIARRVAY
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
45 – 333 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies.
Kohda M.; Tokuzawa Y.; Kishita Y.; Nyuzuki H.; Moriyama Y.; Mizuno Y.; Hirata T.; Yatsuka Y.; Yamashita-Sugahara Y.; Nakachi Y.; Kato H.; Okuda A.; Tamaru S.; Borna N.N.; Banshoya K.; Aigaki T.; Sato-Miyata Y.; Ohnuma K.; Suzuki T.; Nagao A.; Maehata H.; Matsuda F.; Higasa K.; Nagasaki M.; Yasuda J.; Yamamoto M.; Fushimi T.; Shimura M.; Kaiho-Ichimoto K.; Harashima H.; Yamazaki T.; Mori M.; Murayama K.; Ohtake A.; Okazaki Y.;
PLoS Genet. 12:E1005679-E1005679(2016)
Cited for: INVOLVEMENT IN MC1DN17; VARIANTS MC1DN17 VAL-69; PRO-76; THR-124; ASP-269 AND GLY-274;
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.