Variant position: 55 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 68 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 LPPSPKPMKMKNYNKPWEPK WTKICSLHSLPPQS
Gorilla LPPLPKTMKMKNFCKPWEPK WTKIYSLHSLPPQS
Chimpanzee LPPSPKPMKMKNYNKPWEPK WTKIYSLHSLPPQS
Mouse LAPSPKSLTTMKVKTPWELK WTKIYLPHSLPQQ-
Rat APPSPKTMATEKTNNPWESK WTKTYLPLSLPPQ-
Pig ASPESIELKTQKHSTPWEMK WTKIYLPLLLPPR-
Bovine HNPELTPTKMLKQNTPWETK WTKIYLPLLLPL--
Rabbit MNPVLKALESTSFPCPWETK WTKIYSPLSLPQH-
Goat HNPEL-TAKMLKHNTPWETK WTKIYLPLLLPL--
Sheep HNPELMTTKTPKQNTPWETK WTKIYLPLSLPL--
Cat SNPEPKSMTTLKQRNPWEKK WTKIYSPLSLPQQ-
Horse THPEVKTTKMTKHSAPWESK WTKIYSPLSLPQQ-
Chicken NNPANKITTTK--PTPWTWP WT------------
Xenopus laevis NEPTTQTTEKSK-PNPWNWP WT------------
Zebrafish NDPTQVDAKEHK-NDTWNWP W-------------
Drosophila NSPKSNELKNIN-LNSMNWK W-------------
Baker's yeast M------------------- ILRLYVSRLFISKL
Fission yeast R------------------- YNELFISRSIISSL
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 – 68 ATP synthase protein 8
54 – 54 N6-acetyllysine; alternate
54 – 54 N6-succinyllysine; alternate
57 – 57 N6-acetyllysine
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
Ware S.M.; El-Hassan N.; Kahler S.G.; Zhang Q.; Ma Y.W.; Miller E.; Wong B.; Spicer R.L.; Craigen W.J.; Kozel B.A.; Grange D.K.; Wong L.J.;
J. Med. Genet. 46:308-314(2009)
Cited for: VARIANT MC5DM2 ARG-55; INVOLVEMENT IN CMHI; VARIANT CMHI ARG-55;
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.