Variant position: 70 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 375 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 KDSYVGDEAQSKRGILTLKY PIEHGIVTNWDDMEKIWHHTF
Mouse KDSYVGDEAQSKRGILTLKY PIEHGIVTNWDDMEKIWHHTF
Rat KDSYVGDEAQSKRGILTLKY PIEHGIVTNWDDMEKIWHHTF
Bovine KDSYVGDEAQSKRGILTLKY PIEHGIVTNWDDMEKIWHHTF
Chicken KDSYVGDEAQSKRGILTLKY PIEHGIVTNWDDMEKIWHHTF
Xenopus laevis KDSYVGDEAQSKRGILTLKY PIEHGIVTNWDDMEKIWHHTF
Xenopus tropicalis KDSYVGDEAQSKRGILTLKY PIEHGIVTNWDDMEKIWHHTF
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 – 375 Actin, cytoplasmic 2
2 – 375 Actin, cytoplasmic 2, N-terminally processed
73 – 73 Tele-methylhistidine
84 – 84 N6-methyllysine
50 – 50 (Microbial infection) Isoglutamyl lysine isopeptide (Lys-Glu) (interchain with E-270); by Vibrio toxins RtxA and VgrG1
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Rainger J.; Williamson K.A.; Soares D.C.; Truch J.; Kurian D.; Gillessen-Kaesbach G.; Seawright A.; Prendergast J.; Halachev M.; Wheeler A.; McTeir L.; Gill A.C.; van Heyningen V.; Davey M.G.; FitzPatrick D.R.;
Hum. Mutat. 38:942-946(2017)
Cited for: VARIANT LEU-70; CHARACTERIZATION OF VARIANT LEU-70; INTERACTION WITH CAPZB; TWF1; COFILIN AND PROFILIN; SUBCELLULAR LOCATION;
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.