Sequence information
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:
KDSYVGDEAQSKRGILTLKY
P IEHGIVTNWDDMEKIWHHTF
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 KDSYVGDEAQSKRGILTLKYP IEHGIVTNWDDMEKIWHHTF
Mouse KDSYVGDEAQSKRGILTLKYP IEHGIVTNWDDMEKIWHHTF
Rat KDSYVGDEAQSKRGILTLKYP IEHGIVTNWDDMEKIWHHTF
Bovine KDSYVGDEAQSKRGILTLKYP IEHGIVTNWDDMEKIWHHTF
Chicken KDSYVGDEAQSKRGILTLKYP IEHGIVTNWDDMEKIWHHTF
Xenopus laevis KDSYVGDEAQSKRGILTLKYP IEHGIVTNWDDMEKIWHHTF
Xenopus tropicalis KDSYVGDEAQSKRGILTLKYP IEHGIVTNWDDMEKIWHHTF
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
Chain
1 – 375
Actin, cytoplasmic 2
Chain
2 – 375
Actin, cytoplasmic 2, N-terminally processed
Modified residue
73 – 73
Tele-methylhistidine
Modified residue
84 – 84
N6-methyllysine
Cross
50 – 50
(Microbial infection) Isoglutamyl lysine isopeptide (Lys-Glu) (interchain with E-270); by Vibrio toxins RtxA and VgrG1
Literature citations
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;
Disclaimer:
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.