Difference between revisions of "Mapping SNPs HEXA"

From Bioinformatikpedia
(→‎Comparison of mutations in HGMD and SNP-DB)
(→‎Comparison of mutations in HGMD and SNP-DB)
Line 173: Line 173:
 
{| border="1" style="text-align:center; border-spacing:0;"
  
{| border="1" style="text-align:center; border-spacing:0;"
 
|-
  
|-
  +
|Codonposition
−
|Position
  
  +
|Mutationposition
 
|Amino Acids
  
|Amino Acids
 
|Codons
  
|Codons
 
|-
  
|-
 
|rowspan="3" | 248
 
|rowspan="3" | 248
  +
|1
 
|Asp -> Lys
  
|Asp -> Lys
 
|GAA -> AAA
  
|GAA -> AAA
 
|-
  
|-
  +
|2
 
|Arg -> Glu
  
|Arg -> Glu
 
|CGA -> CAA
  
|CGA -> CAA
 
|-
  
|-
  +
|3
 
|Pro -> Pro
  
|Pro -> Pro
 
|CCG -> CCA
  
|CCG -> CCA
 
|-
  
|-
 
|rowspan="3" | 203
 
|rowspan="3" | 203
  +
|1
 
|STOP -> Arg
  
|STOP -> Arg
 
|TGA -> CGA
  
|TGA -> CGA
 
|-
  
|-
  +
|2
 
|Leu -> Pro
  
|Leu -> Pro
 
|CTG -> CCG
  
|CTG -> CCG
 
|-
  
|-
  +
|3
 
|Thr -> Thr
  
|Thr -> Thr
 
|ACT -> ACC
  
|ACT -> ACC
 
|-
  
|-
 
|rowspan="3" | 179
 
|rowspan="3" | 179
  +
|1
 
|Val -> Leu
  
|Val -> Leu
 
|GTA -> CTA
  
|GTA -> CTA
 
|-
  
|-
  +
|2
 
|Ser -> Thr
  
|Ser -> Thr
 
|AGT -> ACT
  
|AGT -> ACT
 
|-
  
|-
  +
|3
 
|Asp -> Asp
  
|Asp -> Asp
 
|GAG -> GAC
  
|GAG -> GAC
 
|-
  
|-
 
|rowspan="3" | 191
 
|rowspan="3" | 191
  +
|1
 
|Asp -> Asn
  
|Asp -> Asn
 
|GAC -> AAC
  
|GAC -> AAC
 
|-
  
|-
  +
|2
 
|Arg -> Lys
  
|Arg -> Lys
 
|AGA -> AAA
  
|AGA -> AAA
 
|-
  
|-
  +
|3
 
|Asp -> Asp
  
|Asp -> Asp
 
|GAG -> GAA
  
|GAG -> GAA
 
|-
  
|-
 
|rowspan="3" | 116
 
|rowspan="3" | 116
  +
|1
 
|Phe -> Leu
  
|Phe -> Leu
 
|TTC -> CTC
  
|TTC -> CTC
 
|-
  
|-
  +
|2
 
|Leu -> Pro
  
|Leu -> Pro
 
|CTT -> CCT
  
|CTT -> CCT
 
|-
  
|-
  +
|3
 
|Thr -> Thr
  
|Thr -> Thr
 
|ACT -> ACC
  
|ACT -> ACC
 
|-
  
|-
 
|rowspan="3" | 116
 
|rowspan="3" | 116
  +
|1
 
|Ser -> Pro
  
|Ser -> Pro
 
|TCC -> CCC
  
|TCC -> CCC
 
|-
  
|-
  +
|2
 
|Phe -> Ser
  
|Phe -> Ser
 
|TTC -> TCC
  
|TTC -> TCC
 
|-
  
|-
  +
|3
 
|Val -> Val
  
|Val -> Val
 
|GTT -> GTC
  
|GTT -> GTC
 
|-
  
|-
 
|rowspan="3" | 446
 
|rowspan="3" | 446
  +
|1
 
|Gly -> Arg
  
|Gly -> Arg
 
|GGG -> AGG
  
|GGG -> AGG
 
|-
  
|-
  +
|2
 
|Arg -> Glu
  
|Arg -> Glu
 
|CGG -> CAG
  
|CGG -> CAG
 
|-
  
|-
  +
|3
 
|Ser -> Ser
  
|Ser -> Ser
 
|TCG -> TCA
  
|TCG -> TCA
 
|-
  
|-
−
|rowspan="4" | 324
 +
|rowspan="6" | 324
−
|colspan="2" | STOP -> Arg
 +
|rowspan="2" | 1
  +
|STOP -> Arg
  +
|TGA -> AGA
  +
|-
  +
|STOP -> Arg
 
|TGA -> CGA
  
|TGA -> CGA
 
|-
  
|-
  +
|rowspan="2" | 2
−
|STOP -> Arg
  
−
|TGA -> AGA
 +
|Leu -> STOP
  +
|TTG -> TAG
 
|-
  
|-
  +
|Leu -> Ser
−
|test
 
−
|972A>T -> 972A>T
 +
|TTG -> TCG
 
|-
  
|-
  +
|rowspan="2" | 3
 
|Val -> Val
  
|Val -> Val
−
|GTC -> GTA
 +
|GTT -> GTA
  +
|-
  +
|Val -> Val
  +
|GTT -> GTC
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Leu -> Leu
  
|Leu -> Leu
 
|TTG -> CTG
  
|TTG -> CTG
 
|-
  
|-
  +
|2
 
|Phe -> Ser
  
|Phe -> Ser
 
|TTT -> TCT
  
|TTT -> TCT
 
|-
  
|-
  +
|3
 
|Leu -> Leu
  
|Leu -> Leu
 
|CTT -> CTC
  
|CTT -> CTC
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Val -> Met
  
|Val -> Met
 
|GTG -> ATG
  
|GTG -> ATG
 
|-
  
|-
  +
|2
 
|Ser -> Asn
  
|Ser -> Asn
 
|AGT -> AAT
  
|AGT -> AAT
 
|-
  
|-
  +
|3
 
|Lys -> Lys
  
|Lys -> Lys
 
|AAG -> AAA
  
|AAG -> AAA
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Leu -> Leu
  
|Leu -> Leu
 
|TTA -> CTA
  
|TTA -> CTA
 
|-
  
|-
  +
|2
 
|Val -> Ala
  
|Val -> Ala
 
|GTT -> GCT
  
|GTT -> GCT
 
|-
  
|-
  +
|3
 
|Gly -> Gly
  
|Gly -> Gly
 
|GGT -> GGC
  
|GGT -> GGC
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Tyr -> His
  
|Tyr -> His
 
|TAC -> CAC
  
|TAC -> CAC
 
|-
  
|-
  +
|2
 
|Iso -> Thr
  
|Iso -> Thr
 
|ATA -> ACA
  
|ATA -> ACA
 
|-
  
|-
  +
|3
 
|Tyr -> Tyr
  
|Tyr -> Tyr
 
|TAT -> TAC
  
|TAT -> TAC
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Cys -> Arg
  
|Cys -> Arg
 
|TGC -> CGC
  
|TGC -> CGC
 
|-
  
|-
  +
|2
 
|Leu -> Pro
  
|Leu -> Pro
 
|CTG -> CCG
  
|CTG -> CCG
 
|-
  
|-
  +
|3
 
|Ser -> Ser
  
|Ser -> Ser
 
|TCT -> TCC
  
|TCT -> TCC
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Trp -> Arg
  
|Trp -> Arg
 
|TGG -> CGG
  
|TGG -> CGG
 
|-
  
|-
  +
|2
 
|Leu -> Ser
  
|Leu -> Ser
 
|TTG -> TCG
  
|TTG -> TCG
 
|-
  
|-
  +
|3
 
|Leu -> Leu
  
|Leu -> Leu
 
|CTT -> CTC
  
|CTT -> CTC
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Val -> Leu
  
|Val -> Leu
 
|GTG -> CTG
  
|GTG -> CTG
 
|-
  
|-
  +
|2
 
|Cys -> Ser
  
|Cys -> Ser
 
|TGT -> TCT
  
|TGT -> TCT
 
|-
  
|-
  +
|3
 
|Leu -> Leu
  
|Leu -> Leu
 
|CTG -> CTC
  
|CTG -> CTC
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Cys -> Arg
  
|Cys -> Arg
 
|TGC -> CGC
  
|TGC -> CGC
 
|-
  
|-
  +
|2
 
|Met -> Thr
  
|Met -> Thr
 
|ATG -> ACG
  
|ATG -> ACG
 
|-
  
|-
  +
|3
 
|Tyr -> Tyr
  
|Tyr -> Tyr
 
|TAT -> TAC
  
|TAT -> TAC
 
|-
  
|-
 
|rowspan="3" | 358
 
|rowspan="3" | 358
  +
|1
 
|Asp -> His
  
|Asp -> His
 
|GAT -> CAT
  
|GAT -> CAT
 
|-
  
|-
  +
|2
 
|Arg -> Thr
  
|Arg -> Thr
 
|AGA -> ACA
  
|AGA -> ACA
 
|-
  
|-
  +
|3
 
|Glu -> His
  
|Glu -> His
 
|CAG -> CAC
  
|CAG -> CAC
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Ala -> Pro
  
|Ala -> Pro
 
|GCT -> CCT
  
|GCT -> CCT
 
|-
  
|-
  +
|2
 
|Arg -> Pro
  
|Arg -> Pro
 
|CGC -> CCC
  
|CGC -> CCC
 
|-
  
|-
  +
|3
 
|Ser -> Ser
  
|Ser -> Ser
 
|TCG -> TCC
  
|TCG -> TCC
 
|-
  
|-
 
|rowspan="3" | 269
 
|rowspan="3" | 269
  +
|1
 
|Val -> Iso
  
|Val -> Iso
 
|GTT -> ATT
  
|GTT -> ATT
 
|-
  
|-
  +
|2
 
|Gly -> Asp
  
|Gly -> Asp
 
|GGT -> GAT
  
|GGT -> GAT
 
|-
  
|-
  +
|3
 
|Trp -> STOP
  
|Trp -> STOP
 
|TGG -> TGA
  
|TGG -> TGA
 
|-
  
|-
 
|rowspan="3" | 269
 
|rowspan="3" | 269
  +
|1
 
|STOP -> Arg
  
|STOP -> Arg
 
|TGA -> CGA
  
|TGA -> CGA
 
|-
  
|-
  +
|2
 
|Leu -> Pro
  
|Leu -> Pro
 
|CTG -> CCG
  
|CTG -> CCG
 
|-
  
|-
  +
|3
 
|Pro -> Pro
  
|Pro -> Pro
 
|CCT -> CCC
  
|CCT -> CCC
 
|-
  
|-
 
|rowspan="3" | 138
 
|rowspan="3" | 138
  +
|1
 
|Asp -> Lys
  
|Asp -> Lys
 
|GAG -> AAG
  
|GAG -> AAG
 
|-
  
|-
  +
|2
 
|Arg -> Lys
  
|Arg -> Lys
 
|AGA -> AAA
  
|AGA -> AAA
 
|-
  
|-
  +
|3
 
|Lys -> Lys
  
|Lys -> Lys
 
|AAG -> AAA
  
|AAG -> AAA
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Phe -> Leu
  
|Phe -> Leu
 
|TTC -> CTC
  
|TTC -> CTC
 
|-
  
|-
  +
|2
 
|Phe -> Ser
  
|Phe -> Ser
 
|TTT -> TCT
  
|TTT -> TCT
 
|-
  
|-
  +
|3
 
|Phe -> Phe
  
|Phe -> Phe
 
|TTT -> TTC
  
|TTT -> TTC
 
|-
  
|-
 
|rowspan="3" | 138
 
|rowspan="3" | 138
  +
|1
 
|Asp -> Lys
  
|Asp -> Lys
 
|GAA -> AAA
  
|GAA -> AAA
 
|-
  
|-
  +
|2
 
|STOP -> STOP
  
|STOP -> STOP
 
|TGA -> TAA
  
|TGA -> TAA
 
|-
  
|-
  +
|3
 
|Leu -> Leu
  
|Leu -> Leu
 
|TTG -> TTA
  
|TTG -> TTA
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Val -> Iso
  
|Val -> Iso
 
|GTA -> ATA
  
|GTA -> ATA
 
|-
  
|-
  +
|2
 
|Cys -> Tyr
  
|Cys -> Tyr
 
|TGT -> TAT
  
|TGT -> TAT
 
|-
  
|-
  +
|3
 
|Leu -> Leu
  
|Leu -> Leu
 
|TTG -> TTA
  
|TTG -> TTA
 
|-
  
|-
 
|rowspan="3" | 109
 
|rowspan="3" | 109
  +
|1
 
|Phe -> Leu
  
|Phe -> Leu
 
|TTT -> CTT
  
|TTT -> CTT
 
|-
  
|-
  +
|2
 
|Leu -> Pro
  
|Leu -> Pro
 
|CTT -> CCT
  
|CTT -> CCT
 
|-
  
|-
  +
|3
 
|Thr -> Thr
  
|Thr -> Thr
 
|ACT -> ACC
  
|ACT -> ACC
 
|-
  
|-
 
|rowspan="3" | 191
 
|rowspan="3" | 191
  +
|1
 
|Ala -> Thr
  
|Ala -> Thr
 
|GCC -> ACC
  
|GCC -> ACC
 
|-
  
|-
  +
|2
 
|Arg -> His
  
|Arg -> His
 
|CGC -> CAC
  
|CGC -> CAC
 
|-
  
|-
  +
|3
 
|Ser -> Ser
  
|Ser -> Ser
 
|TCG -> TCA
  
|TCG -> TCA
 
|-
  
|-
 
|rowspan="3" | 138
 
|rowspan="3" | 138
  +
|1
 
|Glu -> Lys
  
|Glu -> Lys
 
|CAA -> AAA
  
|CAA -> AAA
 
|-
  
|-
  +
|2
 
|Thr -> Lys
  
|Thr -> Lys
 
|ACA -> AAA
  
|ACA -> AAA
 
|-
  
|-
  +
|3
 
|Asp -> Asp
  
|Asp -> Asp
 
|GAC -> GAA
  
|GAC -> GAA
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Cys -> Arg
  
|Cys -> Arg
 
|TGT -> CGT
  
|TGT -> CGT
 
|-
  
|-
  +
|2
 
|Leu -> Pro
  
|Leu -> Pro
 
|CTG -> CCG
  
|CTG -> CCG
 
|-
  
|-
  +
|3
 
|Pro -> Pro
  
|Pro -> Pro
 
|CCT -> CCC
  
|CCT -> CCC
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Asp -> Asn
  
|Asp -> Asn
 
|GAT -> AAT
  
|GAT -> AAT
 
|-
  
|-
  +
|2
 
|STOP -> STOP
  
|STOP -> STOP
 
|TGA -> TAA
  
|TGA -> TAA
 
|-
  
|-
  +
|3
 
|Met -> Iso
  
|Met -> Iso
 
|ATG -> ATA
  
|ATG -> ATA
 
|-
  
|-
 
|rowspan="3" | 116
 
|rowspan="3" | 116
  +
|1
 
|Ser -> Ala
  
|Ser -> Ala
 
|TCT -> GCT
  
|TCT -> GCT
 
|-
  
|-
  +
|2
 
|Phe -> Cys
  
|Phe -> Cys
 
|TTC -> TGC
  
|TTC -> TGC
 
|-
  
|-
  +
|3
 
|Iso -> Met
  
|Iso -> Met
 
|ATT -> ATG
  
|ATT -> ATG
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Glu -> Lys
  
|Glu -> Lys
 
|CAG -> AAG
  
|CAG -> AAG
 
|-
  
|-
  +
|2
 
|Thr -> Lys
  
|Thr -> Lys
 
|ACA -> AAA
  
|ACA -> AAA
 
|-
  
|-
  +
|3
 
|Asp -> Asp
  
|Asp -> Asp
 
|GAC -> GAA
  
|GAC -> GAA
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Ser -> Pro
  
|Ser -> Pro
 
|TCT -> CCT
  
|TCT -> CCT
 
|-
  
|-
  +
|2
 
|Phe -> Ser
  
|Phe -> Ser
 
|TTC -> TCC
  
|TTC -> TCC
 
|-
  
|-
  +
|3
 
|Leu -> Leu
  
|Leu -> Leu
 
|CTT -> CTC
  
|CTT -> CTC
 
|-
  
|-
 
|rowspan="3" | 474
 
|rowspan="3" | 474
  +
|1
 
|Trp -> Arg
  
|Trp -> Arg
 
|TGG -> CGG
  
|TGG -> CGG
 
|-
  
|-
  +
|2
 
|Met -> Thr
  
|Met -> Thr
 
|ATG -> ACG
  
|ATG -> ACG
 
|-
  
|-
  +
|3
 
|Tyr -> Tyr
  
|Tyr -> Tyr
 
|TAT -> TAC
  
|TAT -> TAC
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Ala -> Thr
  
|Ala -> Thr
 
|GCT -> ACT
  
|GCT -> ACT
 
|-
  
|-
  +
|2
 
|Arg -> His
  
|Arg -> His
 
|CGC -> CAC
  
|CGC -> CAC
 
|-
  
|-
  +
|3
 
|Ser -> Ser
  
|Ser -> Ser
 
|TCG -> TCA
  
|TCG -> TCA
 
|-
  
|-
 
|rowspan="3" | 540
 
|rowspan="3" | 540
  +
|1
 
|STOP -> Glu
  
|STOP -> Glu
 
|TAG -> CAG
  
|TAG -> CAG
 
|-
  
|-
  +
|2
 
|Iso -> Thr
  
|Iso -> Thr
 
|ATA -> ACA
  
|ATA -> ACA
 
|-
  
|-
  +
|3
 
|His -> His
  
|His -> His
 
|CAT -> CAC
  
|CAT -> CAC
 
|-
  
|-
 
|rowspan="3" | 476
 
|rowspan="3" | 476
  +
|1
 
|Val -> Iso
  
|Val -> Iso
 
|GTT -> ATT
  
|GTT -> ATT
 
|-
  
|-
  +
|2
 
|Ser -> Asn
  
|Ser -> Asn
 
|AGT -> AAT
  
|AGT -> AAT
 
|-
  
|-
  +
|3
 
|Lys -> Lys
  
|Lys -> Lys
 
|AAG -> AAA
  
|AAG -> AAA
 
|-
  
|-
 
|rowspan="3" | 29
 
|rowspan="3" | 29
  +
|1
 
|Phe -> Leu
  
|Phe -> Leu
 
|TTC -> CTC
  
|TTC -> CTC
 
|-
  
|-
  +
|2
 
|Val -> Ala
  
|Val -> Ala
 
|GTT -> GCT
  
|GTT -> GCT
 
|-
  
|-
  +
|3
 
|Cys -> Cys
  
|Cys -> Cys
 
|TGT -> TGC
  
|TGT -> TGC
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Trp -> Arg
  
|Trp -> Arg
 
|TGG -> CGG
  
|TGG -> CGG
 
|-
  
|-
  +
|2
 
|Leu -> Ser
  
|Leu -> Ser
 
|TTG -> TCG
  
|TTG -> TCG
 
|-
  
|-
  +
|3
 
|Phe -> Phe
  
|Phe -> Phe
 
|TTT -> TTC
  
|TTT -> TTC
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Leu -> Iso
  
|Leu -> Iso
 
|CTA -> ATA
  
|CTA -> ATA
 
|-
  
|-
  +
|2
 
|Ser -> Tyr
  
|Ser -> Tyr
 
|TCT -> TAT
  
|TCT -> TAT
 
|-
  
|-
  +
|3
 
|Phe -> Leu
  
|Phe -> Leu
 
|TTC -> TTA
  
|TTC -> TTA
 
|-
  
|-
 
|rowspan="3" | 138
 
|rowspan="3" | 138
  +
|1
 
|Asp -> Lys
  
|Asp -> Lys
 
|GAG -> AAG
  
|GAG -> AAG
 
|-
  
|-
  +
|2
 
|STOP -> STOP
  
|STOP -> STOP
 
|TGA -> TAA
  
|TGA -> TAA
 
|-
  
|-
  +
|3
 
|Leu -> Leu
  
|Leu -> Leu
 
|CTG -> CTA
  
|CTG -> CTA
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Gly -> Arg
  
|Gly -> Arg
 
|GGA -> AGA
  
|GGA -> AGA
 
|-
  
|-
  +
|2
 
|Arg -> Lys
  
|Arg -> Lys
 
|AGG -> AAG
  
|AGG -> AAG
 
|-
  
|-
  +
|3
 
|STOP -> STOP
  
|STOP -> STOP
 
|TAG -> TAA
  
|TAG -> TAA
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Val -> Leu
  
|Val -> Leu
 
|GTC -> CTC
  
|GTC -> CTC
 
|-
  
|-
  +
|2
 
|Gly -> Ala
  
|Gly -> Ala
 
|GGT -> GCT
  
|GGT -> GCT
 
|-
  
|-
  +
|3
 
|Gly -> Gly
  
|Gly -> Gly
 
|GGG -> GGC
  
|GGG -> GGC
 
|-
  
|-
 
|rowspan="3" | 208
 
|rowspan="3" | 208
  +
|1
 
|Leu -> Leu
  
|Leu -> Leu
 
|TTG -> CTG
  
|TTG -> CTG
 
|-
  
|-
  +
|2
 
|Iso -> Thr
  
|Iso -> Thr
 
|ATT -> ACT
  
|ATT -> ACT
 
|-
  
|-
  +
|3
 
|Tyr -> Tyr
  
|Tyr -> Tyr
 
|TAT -> TAC
  
|TAT -> TAC
 
|-
  
|-
 
|rowspan="3" | 358
 
|rowspan="3" | 358
  +
|1
 
|Trp -> Arg
  
|Trp -> Arg
 
|TGG -> AGG
  
|TGG -> AGG
 
|-
  
|-
  +
|2
 
|Leu -> Glu
  
|Leu -> Glu
 
|CTG -> CAG
  
|CTG -> CAG
 
|-
  
|-
  +
|3
 
|Pro -> Pro
  
|Pro -> Pro
 
|CCT -> CCA
  
|CCT -> CCA
 
|-
  
|-
 
|rowspan="3" | 358
 
|rowspan="3" | 358
  +
|1
 
|Trp -> Gly
  
|Trp -> Gly
 
|TGG -> GGG
  
|TGG -> GGG
 
|-
  
|-
  +
|2
 
|Val -> Gly
  
|Val -> Gly
 
|GTG -> GGG
  
|GTG -> GGG
 
|-
  
|-
  +
|3
 
|Ser -> Arg
  
|Ser -> Arg
 
|AGT -> AGG
  
|AGT -> AGG
 
|-
  
|-
 
|rowspan="3" | 444
 
|rowspan="3" | 444
  +
|1
 
|Ser -> Pro
  
|Ser -> Pro
 
|TCA -> CCA
  
|TCA -> CCA
 
|-
  
|-
  +
|2
 
|Phe -> Ser
  
|Phe -> Ser
 
|TTC -> TCC
  
|TTC -> TCC
 
|-
  
|-
  +
|3
 
|Leu -> Leu
  
|Leu -> Leu
 
|CTT -> CTC
  
|CTT -> CTC
 
|-
  
|-
 
|rowspan="3" | 474
 
|rowspan="3" | 474
  +
|1
 
|Leu -> Leu
  
|Leu -> Leu
 
|TTG -> CTG
  
|TTG -> CTG
 
|-
  
|-
  +
|2
 
|Val -> Ala
  
|Val -> Ala
 
|GTT -> GCT
  
|GTT -> GCT
 
|-
  
|-
  +
|3
 
|Gly -> Gly
  
|Gly -> Gly
 
|GGT -> GGC
  
|GGT -> GGC
 
|-
  
|-
 
|rowspan="3" | 509
 
|rowspan="3" | 509
  +
|1
 
|STOP -> Glu
  
|STOP -> Glu
 
|TAG -> CAG
  
|TAG -> CAG
 
|-
  
|-
  +
|2
 
|Iso -> Thr
  
|Iso -> Thr
 
|ATA -> ACA
  
|ATA -> ACA
 
|-
  
|-
  +
|3
 
|Tyr -> Tyr
  
|Tyr -> Tyr
 
|TAT -> TAC
  
|TAT -> TAC
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Asp -> Glu
  
|Asp -> Glu
 
|GAG -> CAG
  
|GAG -> CAG
 
|-
  
|-
  +
|2
 
|STOP -> Ser
  
|STOP -> Ser
 
|TGA -> TCA
  
|TGA -> TCA
 
|-
  
|-
  +
|3
 
|Val -> Val
  
|Val -> Val
 
|GTG -> GTC
  
|GTG -> GTC
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Val -> Leu
  
|Val -> Leu
 
|GTT -> CTT
  
|GTT -> CTT
 
|-
  
|-
  +
|2
 
|Ser -> Thr
  
|Ser -> Thr
 
|AGT -> ACT
  
|AGT -> ACT
 
|-
  
|-
  +
|3
 
|Asp -> Asp
  
|Asp -> Asp
 
|GAG -> GAC
  
|GAG -> GAC
 
|-
  
|-
 
|rowspan="3" | 3
 
|rowspan="3" | 3
  +
|1
 
|Phe -> Leu
  
|Phe -> Leu
 
|TTC -> CTC
  
|TTC -> CTC
 
|-
  
|-
  +
|2
 
|Val -> Ala
  
|Val -> Ala
 
|GTT -> GCT
  
|GTT -> GCT
 
|-
  
|-
  +
|3
 
|Ser -> Ser
  
|Ser -> Ser
 
|AGT -> AGC
  
|AGT -> AGC
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Glu -> Lys
  
|Glu -> Lys
 
|CAG -> AAG
  
|CAG -> AAG
 
|-
  
|-
  +
|2
 
|Ala -> Asp
  
|Ala -> Asp
 
|GCA -> GAA
  
|GCA -> GAA
 
|-
  
|-
  +
|3
 
|Cys -> STOP
  
|Cys -> STOP
 
|TGC -> TGA
  
|TGC -> TGA
 
|-
  
|-
 
|rowspan="3" | 85
 
|rowspan="3" | 85
  +
|1
 
|Asp -> Asn
  
|Asp -> Asn
 
|GAC -> AAC
  
|GAC -> AAC
 
|-
  
|-
  +
|2
 
|Arg -> Glu
  
|Arg -> Glu
 
|CGA -> CAA
  
|CGA -> CAA
 
|-
  
|-
  +
|3
 
|Pro -> Pro
  
|Pro -> Pro
 
|CCG -> CCA
  
|CCG -> CCA

Revision as of 17:12, 14 June 2011

Comparison of mutations in HGMD and SNP-DB

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

Mutations annotated only in HGMD: not found

Mutations annotated only in SNP-DB:

Codonposition Mutationposition Amino Acids Codons
248 1 Asp -> Lys GAA -> AAA
2 Arg -> Glu CGA -> CAA
3 Pro -> Pro CCG -> CCA
203 1 STOP -> 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 STOP -> Arg TGA -> AGA
STOP -> Arg TGA -> CGA
2 Leu -> STOP 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 -> STOP TGG -> TGA
269 1 STOP -> 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 STOP -> STOP 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 STOP -> STOP 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 STOP -> 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 STOP -> STOP TGA -> TAA
3 Leu -> Leu CTG -> CTA
85 1 Gly -> Arg GGA -> AGA
2 Arg -> Lys AGG -> AAG
3 STOP -> STOP 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 STOP -> Glu TAG -> CAG
2 Iso -> Thr ATA -> ACA
3 Tyr -> Tyr TAT -> TAC
85 1 Asp -> Glu GAG -> CAG
2 STOP -> 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 -> STOP TGC -> TGA
85 1 Asp -> Asn GAC -> AAC
2 Arg -> Glu CGA -> CAA
3 Pro -> Pro CCG -> CCA
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