Mapping SNPs HEXA

Comparison of mutations in HGMD and SNP-DB

• Mutations annotated in both databases:

mutations which are not silent and cause a phenotype

Codonposition	Mutationposition	Amino Acids	Codons
26	3	Trp -> TER	TGGc -> TGA
39	2	Leu -> Arg	CTT -> CGT
127	1	Leu -> Phe	aCTC -> TTC
	2	Leu -> Arg	CTC -> CGC
137	1	Arg -> TER	cCGA -> TGA
170	1	Arg -> Trp	cCGG -> TGG
	2	Arg -> Gln	CGG -> CAG
178	2	Arg -> His	CGC -> CAC
	2	Arg -> Leu	CGC -> CTC
	1	Arg -> Cys	tCGC -> TGC
180	3	Tyr -> TER	TACc -> TAG
	1	Tyr -> His	tTAC -> CAC
197	2	Lys -> Thr	AAA -> ACA
200	1	Val -> Met	cGTG -> ATG
204	2	His -> Arg	CAT -> CGT
210	2	Ser -> Phe	TCC -> TTC
211	2	Phe -> Ser	TTC -> TCC
247	1	Arg -> Trp	aCGG -> TGG
250	1	Gly -> Ser	gGGT -> AGT
	2	Gly -> Asp	GGT -> GAT
	2	Gly -> Val	GGT -> GTT
258	1	Asp -> His	tGAC -> CAC
269	1	Gly -> Ser	aGGT -> AGT
	2	Gly -> Asp	GGT -> GAT
301	2	Met -> Arg	ATG -> AGG
329	2	Trp -> TER	TGG -> TAG
393	1	Arg -> TER	gCGA -> TGA
420	3	Trp -> Cys	TGGt -> TGC
	3	Trp -> Cys	TGGt -> TGT
451	1	Leu -> Val	tCTG -> GTG
454	2	Gly -> Asp	GGT -> GAT
	1	Gly -> Ser	tGGT -> AGT
474	3	Trp -> Cys	TGGc -> TGC
482	1	Glu -> Lys	cGAA -> AAA
485	1	Trp -> Arg	gTGG -> CGG
499	1	Arg -> Cys	aCGT -> TGT
	2	Arg -> His	CGT -> CAT
504	1	Arg -> Cys	cCGC -> TGC
	2	Arg -> His	CGC -> CAC

Graphical representation:

 MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLD
 MTSSRLWFSLLLAAAFAGRATALWPXPQNFQTSDQRYVRYPNNFQFQYDVSSAAQPGCSVLD
 
 
 EAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDD
 EAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDD
 
 
 QCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLS
 QCLFLSETVWGALXGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHWGLLLDTSHHXLPLS
 
 
 SILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEY
 SILDTLDVMAYNTLNMFHWRLVDDPFSPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEY
 
 
 ARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFL
 AWLRSIRVLAEFHTPGHTLSWGPSIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFRSTFFL
 
 
 EVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYG
 EVSSVFPDFYLHLGGDEVDFTCXKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYG
 
 
 KGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPWYLNRISYG
 KGYVVWQEVFDNKVKIQPDTIIQVWXEDIPVNYMKELELVTKAGFRALLSAPCYLNRISYG
 
 
 PDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKL
 PDWKDFYIVEPLAFEGTPEQKAVVIDGEACMWGEYVDNTNLVPRLCPRAGAVAKRLRSNKL
 
 

The non-silent mutations are colored in red.

Mutations annotated only in HGMD: not found

Mutations annotated only in SNP-DB:

mutations annotated only in SNP-DB and not silent (pos in codon ist annotiert und sicher):

Codonposition	Mutationposition	Amino Acids	Codons
506	3	Glu -> Asp	GAA -> GAC
		Glu -> Asp	GAA -> GAT
399	1	Asn -> Asp	AAC -> GAC
436	1	Ile -> Val	ATA -> GTA
456	2	Tyr -> Ser	TAT -> TCT
293	2	Ser -> Ile	AGT -> ATT

mutations annotated only in SNP-DB and silent: (pos in codon ist annotiert und sicher)

Position	Amino Acids	Codons
506	Glu -> Glu	GAA -> GAG

silent mutation (unklar an welcher stelle im codon wird nirgends annotiert):

Codonposition	Mutationposition	Amino Acids	Codons
248	1	Asp -> Lys	GAA -> AAA
	2	Arg -> Glu	CGA -> CAA
	3	Pro -> Pro	CCG -> CCA
203	1	TER -> Arg	TGA -> CGA
	2	Leu -> Pro	CTG -> CCG
	3	Thr -> Thr	ACT -> ACC
179	1	Val -> Leu	GTA -> CTA
	2	Ser -> Thr	AGT -> ACT
	3	Asp -> Asp	GAG -> GAC
191	1	Asp -> Asn	GAC -> AAC
	2	Arg -> Lys	AGA -> AAA
	3	Asp -> Asp	GAG -> GAA
116	1	Phe -> Leu	TTC -> CTC
	2	Leu -> Pro	CTT -> CCT
	3	Thr -> Thr	ACT -> ACC
116	1	Ser -> Pro	TCC -> CCC
	2	Phe -> Ser	TTC -> TCC
	3	Val -> Val	GTT -> GTC
446	1	Gly -> Arg	GGG -> AGG
	2	Arg -> Glu	CGG -> CAG
	3	Ser -> Ser	TCG -> TCA
324	1	TER -> Arg	TGA -> AGA
		TER -> Arg	TGA -> CGA
	2	Leu -> TER	TTG -> TAG
		Leu -> Ser	TTG -> TCG
	3	Val -> Val	GTT -> GTA
		Val -> Val	GTT -> GTC
85	1	Leu -> Leu	TTG -> CTG
	2	Phe -> Ser	TTT -> TCT
	3	Leu -> Leu	CTT -> CTC
85	1	Val -> Met	GTG -> ATG
	2	Ser -> Asn	AGT -> AAT
	3	Lys -> Lys	AAG -> AAA
85	1	Leu -> Leu	TTA -> CTA
	2	Val -> Ala	GTT -> GCT
	3	Gly -> Gly	GGT -> GGC
85	1	Tyr -> His	TAC -> CAC
	2	Iso -> Thr	ATA -> ACA
	3	Tyr -> Tyr	TAT -> TAC
85	1	Cys -> Arg	TGC -> CGC
	2	Leu -> Pro	CTG -> CCG
	3	Ser -> Ser	TCT -> TCC
85	1	Trp -> Arg	TGG -> CGG
	2	Leu -> Ser	TTG -> TCG
	3	Leu -> Leu	CTT -> CTC
85	1	Val -> Leu	GTG -> CTG
	2	Cys -> Ser	TGT -> TCT
	3	Leu -> Leu	CTG -> CTC
85	1	Cys -> Arg	TGC -> CGC
	2	Met -> Thr	ATG -> ACG
	3	Tyr -> Tyr	TAT -> TAC
358	1	Asp -> His	GAT -> CAT
	2	Arg -> Thr	AGA -> ACA
	3	Glu -> His	CAG -> CAC
85	1	Ala -> Pro	GCT -> CCT
	2	Arg -> Pro	CGC -> CCC
	3	Ser -> Ser	TCG -> TCC
269	1	Val -> Iso	GTT -> ATT
	2	Gly -> Asp	GGT -> GAT
	3	Trp -> TER	TGG -> TGA
269	1	TER -> Arg	TGA -> CGA
	2	Leu -> Pro	CTG -> CCG
	3	Pro -> Pro	CCT -> CCC
138	1	Asp -> Lys	GAG -> AAG
	2	Arg -> Lys	AGA -> AAA
	3	Lys -> Lys	AAG -> AAA
85	1	Phe -> Leu	TTC -> CTC
	2	Phe -> Ser	TTT -> TCT
	3	Phe -> Phe	TTT -> TTC
138	1	Asp -> Lys	GAA -> AAA
	2	TER -> TER	TGA -> TAA
	3	Leu -> Leu	TTG -> TTA
85	1	Val -> Iso	GTA -> ATA
	2	Cys -> Tyr	TGT -> TAT
	3	Leu -> Leu	TTG -> TTA
109	1	Phe -> Leu	TTT -> CTT
	2	Leu -> Pro	CTT -> CCT
	3	Thr -> Thr	ACT -> ACC
191	1	Ala -> Thr	GCC -> ACC
	2	Arg -> His	CGC -> CAC
	3	Ser -> Ser	TCG -> TCA
138	1	Glu -> Lys	CAA -> AAA
	2	Thr -> Lys	ACA -> AAA
	3	Asp -> Asp	GAC -> GAA
85	1	Cys -> Arg	TGT -> CGT
	2	Leu -> Pro	CTG -> CCG
	3	Pro -> Pro	CCT -> CCC
85	1	Asp -> Asn	GAT -> AAT
	2	TER -> TER	TGA -> TAA
	3	Met -> Iso	ATG -> ATA
116	1	Ser -> Ala	TCT -> GCT
	2	Phe -> Cys	TTC -> TGC
	3	Iso -> Met	ATT -> ATG
85	1	Glu -> Lys	CAG -> AAG
	2	Thr -> Lys	ACA -> AAA
	3	Asp -> Asp	GAC -> GAA
85	1	Ser -> Pro	TCT -> CCT
	2	Phe -> Ser	TTC -> TCC
	3	Leu -> Leu	CTT -> CTC
474	1	Trp -> Arg	TGG -> CGG
	2	Met -> Thr	ATG -> ACG
	3	Tyr -> Tyr	TAT -> TAC
85	1	Ala -> Thr	GCT -> ACT
	2	Arg -> His	CGC -> CAC
	3	Ser -> Ser	TCG -> TCA
540	1	TER -> Glu	TAG -> CAG
	2	Iso -> Thr	ATA -> ACA
	3	His -> His	CAT -> CAC
476	1	Val -> Iso	GTT -> ATT
	2	Ser -> Asn	AGT -> AAT
	3	Lys -> Lys	AAG -> AAA
29	1	Phe -> Leu	TTC -> CTC
	2	Val -> Ala	GTT -> GCT
	3	Cys -> Cys	TGT -> TGC
85	1	Trp -> Arg	TGG -> CGG
	2	Leu -> Ser	TTG -> TCG
	3	Phe -> Phe	TTT -> TTC
85	1	Leu -> Iso	CTA -> ATA
	2	Ser -> Tyr	TCT -> TAT
	3	Phe -> Leu	TTC -> TTA
138	1	Asp -> Lys	GAG -> AAG
	2	TER -> TER	TGA -> TAA
	3	Leu -> Leu	CTG -> CTA
85	1	Gly -> Arg	GGA -> AGA
	2	Arg -> Lys	AGG -> AAG
	3	TER -> TER	TAG -> TAA
85	1	Val -> Leu	GTC -> CTC
	2	Gly -> Ala	GGT -> GCT
	3	Gly -> Gly	GGG -> GGC
208	1	Leu -> Leu	TTG -> CTG
	2	Iso -> Thr	ATT -> ACT
	3	Tyr -> Tyr	TAT -> TAC
358	1	Trp -> Arg	TGG -> AGG
	2	Leu -> Glu	CTG -> CAG
	3	Pro -> Pro	CCT -> CCA
358	1	Trp -> Gly	TGG -> GGG
	2	Val -> Gly	GTG -> GGG
	3	Ser -> Arg	AGT -> AGG
444	1	Ser -> Pro	TCA -> CCA
	2	Phe -> Ser	TTC -> TCC
	3	Leu -> Leu	CTT -> CTC
474	1	Leu -> Leu	TTG -> CTG
	2	Val -> Ala	GTT -> GCT
	3	Gly -> Gly	GGT -> GGC
509	1	TER -> Glu	TAG -> CAG
	2	Iso -> Thr	ATA -> ACA
	3	Tyr -> Tyr	TAT -> TAC
85	1	Asp -> Glu	GAG -> CAG
	2	TER -> Ser	TGA -> TCA
	3	Val -> Val	GTG -> GTC
85	1	Val -> Leu	GTT -> CTT
	2	Ser -> Thr	AGT -> ACT
	3	Asp -> Asp	GAG -> GAC
3	1	Phe -> Leu	TTC -> CTC
	2	Val -> Ala	GTT -> GCT
	3	Ser -> Ser	AGT -> AGC
85	1	Glu -> Lys	CAG -> AAG
	2	Ala -> Asp	GCA -> GAA
	3	Cys -> TER	TGC -> TGA
85	1	Asp -> Asn	GAC -> AAC
	2	Arg -> Glu	CGA -> CAA
	3	Pro -> Pro	CCG -> CCA