A comprehensive in silico exploration of the impacts of missense variants on two different conformations of human pirin protein

Khan, Auroni Semonti; Parvez, Nahid; Ahsan, Tamim; Shoily, Sabrina Samad; Sajib, Abu Ashfaqur

doi:10.1186/s42269-022-00917-7

Bulletin of the National Research Centre

Table 1 Pathogenic missense variants of pirin protein as predicted by five separate tools

From: A comprehensive in silico exploration of the impacts of missense variants on two different conformations of human pirin protein

Variant ID	Variants	SIFT	PolyPhen-2^a	PMut	Meta-SNP	Rhapsody
rs372506134	G19A	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs758349788	V24F	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs1485928589	R25W	Deleterious	Possibly damaging	Disease	Disease	Deleterious
rs766252248	I28T	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs746253345	P38L	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs1277921319	D43H	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs1356176104	H56Q	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs780168534	H58R	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs188288097	R59P	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs188288097	R59Q	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs1319331957	G60S	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs1459166472	G60V	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs780078643	G70A	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs748257098	G70R	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs780078643	G70V	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs750390136	D77E	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs1042818236	F78V	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs757045955	H81P	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs1464579620	G83D	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs866898423	L90F	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs149497039	A95V	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs778749014	G98D	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs140109164	G98S	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs1467570812	H101Y	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs752062795	Q115K	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs1484554733	L116P	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs1329364366	M126T	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs1996173	P129L	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs1294033379	V151D	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs772251328	S161Y	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs953093600	T167I	Deleterious	Possibly damaging	Disease	Disease	Deleterious
rs768193675	D173G	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs780763035	D173N	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs779413343	G179V	Deleterious	Possibly damaging	Disease	Disease	Deleterious
rs760795372	P187L	Deleterious	Possibly damaging	Disease	Disease	Prob.delet
rs1569195774	W190S	Deleterious	Possibly damaging	Disease	Disease	Deleterious
rs751833973	L220P	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs1272804008	P245S	Deleterious	Probably damaging	Disease	Disease	Prob.delet
rs772771810	E248A	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs769242287	E248D	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs747391287	G254C	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs996737505	G254V	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs762648888	V257A	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs764770692	M258I	Deleterious	Probably damaging	Disease	Disease	Deleterious
rs761242213	I264S	Deleterious	Probably damaging	Disease	Disease	Deleterious

^aPolyPhen-2 classifies variants as benign, possibly damaging and probably damaging. Only those variants that were predicted to be “probably damaging” were considered to be harmful to increase the accuracy of prediction

Back to article page