Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia

Table 2

Conservation of the mutated domain across species in comparison to Cases 1 and 4.

Proband in Case 1	QRELELDEL E LRALKEDRKRF	Proband in Case 4	NTLVEDCVKVRSAAV P CL
Homo sapiens	QRELELDEL A LRALKEDRKRF	Homo sapiens	NTLVEDCVKVRSAAV T CL
Human		Human
Mus musculus	QRELELDEC A LRALREDRKRF	Mus musculus	NTLVEDSVKIRSAAA T CL
House mouse		House mouse
Rattus norvegicus	QRELELDEC A LRALKEDRKRF	Rattus norvegicus	NTLVEDSVKIRSAAA T CL
Norway rat		Norway rat
Sus scrofa	QRELELDEG A LRALKKDRKR	Sus scrofa	STLVEDCVKVRSAAV. T CL
Pig		Pig
Canis lupus familiaris	QRELELDEC A LRALKEDRKRF	Canis lupus familiaris	NTLVEDCVKVRSAAV. T CL
Dog		Dog
Macaca mulatta	QRELELDEL A LHALKEDRKRF	Macaca mulatta	NTLVEDCVKVRAAAV T CL
Rhesus monkey		Rhesus monkey
Xenopus tropicalis	QRELELDEC A ILALREDRKRF	Xenopus tropicalis	NTLVEDCVKVRSAAV. T CL
Tropical clawed frog		Tropical clawed frog
Pan troglodytes	QRELELDEL A LRALKEDRKRF	Pan troglodytes	NALTDHCIQVRSAAA. T CL
Chimpanzee		Chimpanzee