Lab Journal - Task 7 (PAH)

Mutation Map

In the table below all 100 SNPs that can be viewed in the mutation map are listed. The second column represent the nucleotide position, the third, which nucleotide is exchanged in which one, the fourth gives the amino acid substitution with codon position and the last column shows the database from which the SNP was taken. We take 50 SNPs of HGMD and 50 SNPs of OMIM and dbSNP. All OMIM SNPs also are found in dbSNP. We only included a few more from dbSNP alone, for which the effect of the SNP is untested in most cases. Except for those few SNPs all others cause PKU according to the databases.

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,untested
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