Lab Journal - Task 7 (PAH)

Mutation Map

SNP ID	Pos. (bp)	Nucleotides	Amino acids	Database
rs62514891	1	A>G	Met1Val	OMIM/dbSNP
CM000541	2	T>G	Met1Arg	HGMD
rs62514893	3	G>A	Met1Ile	OMIM/dbSNP
CM010947	46	T>C	Ser16Pro	HGMD
CM000542	59	A>T	Gln20Leu	HGMD
HM972014	65	C>A	Thr22Lys	HGMD
rs62642926	117	C>G	Phe39Leu	OMIM/dbSNP
CM961063	119	C>T	Ser40Leu	HGMD
rs74603784	136	G>A	Gly46Ser	OMIM/dbSNP
CM993577	140	C>A	Ala47Glu	HGMD
rs5030841	143	T>C	Leu48Ser	OMIM/dbSNP
CM981427	158	G>A	Arg53His	HGMD
CM024619	181	A>G	Asn61Asp	HGMD
rs75193786	194	T>C	Ile65Thr	OMIM/dbSNP
CM981429	208	T>C	Ser70Pro	HGMD
CM961066	250	G>T	Asp84Tyr	HGMD
CM981431	281	T>G	Ile94Ser	HGMD
CM992944	299	A>G	His100Arg	HGMD
CM045080	307	G>A	Gly103Ser	HGMD
CM010951	329	C>T	Ser110Leu	HGMD
rs76296470	331	C>T	Arg111Ter	OMIM/dbSNP
CM971124	365	C>A	Pro122Gln	HGMD
rs199475681	368	G>T	Arg123Ile	dbSNP
CM010952	385	G>T	Asp129Tyr	HGMD
CM981432	395	C>T	Ala132Val	HGMD
CM961070	434	A>T	Asp145Val	HGMD
rs80297647	442	G>A	Gly148Ser	dbSNP,untested
CM056668	470	G>T	Arg157Ile	HGMD
rs5030843	473	G>A	Arg158Gln	OMIM/dbSNP
CM992371	506	G>A	Arg169His	HGMD
CM011946	508	C>G	His170Asp	HGMD
rs192592111	516	G>T	Gln172His	dbSNP,untested
CM981435	561	G>C	Trp187Cys	HGMD
CM950887	581	T>C	Leu194Pro	HGMD
CM981438	608	G>A	Cys203Tyr	HGMD
rs62514927	611	A>G	Tyr204Cys	OMIM/dbSNP
CM010961	648	C>G	Tyr216Term	HGMD
rs62514934	662	A>G	Glu221Gly	OMIM/dbSNP
CM971131	673	C>A	Pro225Thr	HGMD
rs62517178	715	G>A	Gly239Ser	dbSNP,pathogenic
CM034744	716	G>A	Gly239Asp	HGMD
rs5030846	727	C>T	Arg243Ter	OMIM/dbSNP
rs62508588	728	G>A	Arg243Gln	OMIM/dbSNP
rs118203923	731	C>T	Pro244Leu	OMIM/dbSNP
CM920550	731	C>T	Pro244Leu	HGMD
rs5030847	754	C>T	Arg252Trp	OMIM/dbSNP
CM920553	763	T>G	Leu255Val	HGMD
rs62642930	764	T>C	Leu255Ser	OMIM/dbSNP
rs118203921	776	C>T	Ala259Val	OMIM/dbSNP
CM910286	776	C>T	Ala259Val	HGMD
rs5030850	781	C>T	Arg261Ter	OMIM/dbSNP
rs5030849	782	G>A	Arg261Gln	OMIM/dbSNP
CM981442	794	G>A	Cys265Tyr	HGMD
rs62508752	796	A>C	Thr266Ala	dbSNP,untested
CM081725	813	T>G	His271Gln	HGMD
rs62514952	814	G>T	Gly272Ter	OMIM/dbSNP
rs62514953	818	C>T	Ser273Phe	OMIM/dbSNP
CM034745	827	T>G	Met276Arg	HGMD
rs78655458	829	T>G	Tyr277Asp	OMIM/dbSNP
rs62508698	838	G>A	Glu280Lys	OMIM/dbSNP
CM992948	841	C>T	Pro281Ser	HGMD
rs5030851	842	C>T	Pro281Leu	OMIM/dbSNP
rs62507327	864	G>C	Leu288Phe	dbSNP,untested
CM055475	869	A>G	His290Arg	HGMD
rs62642933	896	T>G	Phe299Cys	OMIM/dbSNP
CM015134	922	C>T	Leu308Phe	HGMD
rs62642936	932	T>C	Leu311Pro	OMIM/dbSNP
CM024623	940	C>T	Pro314Ser	HGMD
rs62514959	977	G>A	Trp326Ter	OMIM/dbSNP
CM990999	981	T>G	Phe327Leu	HGMD
CM961082	992	T>G	Phe331Cys	HGMD
CM043317	1007	A>G	Gln336Arg	HGMD
CM010981	1022	A>C	Lys341Thr	HGMD
rs62508651	1027	T>G	Tyr343Asp	dbSNP,untested
CM000550	1031	G>T	Gly344Val	HGMD
rs62508646	1045	T>C	Ser349Pro	OMIM/dbSNP
CM981453	1048	T>A	Ser350Thr	HGMD
rs62516095	1068	C>G	Tyr356Ter	OMIM/dbSNP
CM101146	1071	C>A	Cys357Term	HGMD
rs5030854	1076	C>G	Ser359Ter	OMIM/dbSNP
CM068054	1089	G>T	Lys363Asn	HGMD
CM010984	1130	A>G	Tyr377Cys	HGMD
CM950896	1157	A>G	Tyr386Cys	HGMD
rs62516101	1162	G>A	Val388Met	OMIM/dbSNP
rs5030856	1169	A>G	Glu390Gly	OMIM/dbSNP
rs199475695	1175	T>C	Phe392Ser	dbSNP,untested
CM043319	1184	C>A	Ala395Asp	HGMD
CM030921	1204	T>C	Phe402Leu	HGMD
rs62644473	1220	C>T	Pro407Leu	OMIM/dbSNP
rs5030858	1222	C>T	Arg408Trp	dbSNP,PKU
rs5030859	1223	G>A	Arg408Gln	OMIM/dbSNP
rs62644467	1237	C>T	Arg413Cys	dbSNP,untested
rs79931499	1238	G>C	Arg413Pro	OMIM/dbSNP
CM101145	1242	C>A	Tyr414Term	HGMD
CM090791	1247	C>A	Pro416Gln	HGMD
CM920565	1252	A>C	Thr418Pro	HGMD
rs199475696	1262	T>C	Ile421Thr	dbSNP,untested
CM993961	1271	T>C	Leu424Ser	HGMD
CM010986	1289	T>C	Leu430Pro	HGMD
CM961086	1340	C>A	Ala447Asp	HGMD