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
 MTSSRLWFSLLLAAAFAGRATALWP!PQNFQTSDQRYVRYPNNFQFQYDVSSAAQPGCSVLD
 
 
 EAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDD
 EAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDD
 
 
 QCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLS
 QCLFLSETVWGAL!GLETFSQLVWKSAEGTFFINKTEIEDFPRFPHWGLLLDTSHH!LPLS
 
 
 SILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEY
 SILDTLDVMAYNTLNMFHWRLVDDPFSPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEY
 
 
 ARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFL
 AWLRSIRVLAEFHTPGHTLSWGPSIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFRSTFFL
 
 
 EVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYG
 EVSSVFPDFYLHLGGDEVDFTC!KSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYG
 
 
 KGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPWYLNRISYG
 KGYVVWQEVFDNKVKIQPDTIIQVW!EDIPVNYMKELELVTKAGFRALLSAPCYLNRISYG
 
 
 PDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKL
 PDWKDFYIVEPLAFEGTPEQKAVVIDGEACMWGEYVDNTNLVPRLCPRAGAVAKRLRSNKL
 
 
 Non-silent mutation     Silent mutation

The non-silent mutations are colored in red. A "!" in the sequence means that there is a stop codon.
If there are more than one mutation at one position, we always used the first mutation in the graphical representation.

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

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
3	1	Phe -> Leu	TTC -> CTC
	2	Val -> Ala	GTT -> GCT
	3	Ser -> Ser	AGT -> AGC
29	1	Phe -> Leu	TTC -> CTC
	2	Val -> Ala	GTT -> GCT
	3	Cys -> Cys	TGT -> TGC
109	1	Phe -> Leu	TTT -> CTT
	2	Leu -> Pro	CTT -> CCT
	3	Thr -> Thr	ACT -> ACC
179	1	Val -> Leu	GTA -> CTA
	2	Ser -> Thr	AGT -> ACT
	3	Asp -> Asp	GAG -> GAC
203	1	STOP -> Arg	TGA -> CGA
	2	Leu -> Pro	CTG -> CCG
	3	Thr -> Thr	ACT -> ACC
208	1	Leu -> Leu	TTG -> CTG
	2	Iso -> Thr	ATT -> ACT
	3	Tyr -> Tyr	TAT -> TAC
248	1	Asp -> Lys	GAA -> AAA
	2	Arg -> Glu	CGA -> CAA
	3	Pro -> Pro	CCG -> CCA
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
446	1	Gly -> Arg	GGG -> AGG
	2	Arg -> Glu	CGG -> CAG
	3	Ser -> Ser	TCG -> TCA
476	1	Val -> Iso	GTT -> ATT
	2	Ser -> Asn	AGT -> AAT
	3	Lys -> Lys	AAG -> AAA
540	1	STOP -> Glu	TAG -> CAG
	2	Iso -> Thr	ATA -> ACA
	3	His -> His	CAT -> CAC