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 2: Line 2:
   
 
* Mutations annotated in both databases:
  
* Mutations annotated in both databases:
  +
mutations which are not silent and cause a phenotype
   
 
{| 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
 
|-
  
|-
 
|26
  
|26
  +
|3
 
|Trp -> Ter
  
|Trp -> Ter
 
|TGGc -> TGA
  
|TGGc -> TGA
 
|-
  
|-
 
|39
  
|39
  +
|2
 
|Leu -> Arg
  
|Leu -> Arg
 
|CTT -> CGT
  
|CTT -> CGT
 
|-
  
|-
−
|127
 +
|rowspan="2" | 127
  +
|1
 
|Leu -> Phe
  
|Leu -> Phe
 
|aCTC -> TTC
  
|aCTC -> TTC
 
|-
  
|-
−
|127
 +
|2
 
|Leu -> Arg
  
|Leu -> Arg
 
|CTC -> CGC
  
|CTC -> CGC
 
|-
  
|-
 
|137
  
|137
  +
|1
 
|Arg -> Ter
  
|Arg -> Ter
 
|cCGA -> TGA
  
|cCGA -> TGA
 
|-
  
|-
−
|170
 +
|rowspan="2" | 170
  +
| 1
 
|Arg -> Trp
  
|Arg -> Trp
 
|cCGG -> TGG
  
|cCGG -> TGG
 
|-
  
|-
−
|170
 +
|2
 
|Arg -> Gln
  
|Arg -> Gln
 
|CGG -> CAG
  
|CGG -> CAG
 
|-
  
|-
−
|178
 +
|rowspan="3" | 178
  +
|2
 
|Arg -> His
  
|Arg -> His
 
|CGC -> CAC
  
|CGC -> CAC
 
|-
  
|-
−
|178
 +
|2
 
|Arg -> Leu
  
|Arg -> Leu
 
|CGC -> CTC
  
|CGC -> CTC
 
|-
  
|-
−
|178
 +
|1
 
|Arg -> Cys
  
|Arg -> Cys
 
|tCGC -> TGC
  
|tCGC -> TGC
 
|-
  
|-
−
|180
 +
|rowspan="2" | 180
  +
|3
 
|Tyr -> Ter
  
|Tyr -> Ter
 
|TACc -> TAG
  
|TACc -> TAG
 
|-
  
|-
−
|180
 +
|1
 
|Tyr -> His
  
|Tyr -> His
 
|tTAC -> CAC
  
|tTAC -> CAC
 
|-
  
|-
 
|197
  
|197
  +
|2
 
|Lys -> Thr
  
|Lys -> Thr
 
|AAA -> ACA
  
|AAA -> ACA
 
|-
  
|-
 
|200
  
|200
  +
|1
 
|Val -> Met
  
|Val -> Met
 
|cGTG -> ATG
  
|cGTG -> ATG
 
|-
  
|-
 
|204
  
|204
  +
|2
 
|His -> Arg
  
|His -> Arg
 
|CAT -> CGT
  
|CAT -> CGT
 
|-
  
|-
 
|210
  
|210
  +
|2
 
|Ser -> Phe
  
|Ser -> Phe
 
|TCC -> TTC
  
|TCC -> TTC
 
|-
  
|-
 
|211
  
|211
  +
|2
 
|Phe -> Ser
  
|Phe -> Ser
 
|TTC -> TCC
  
|TTC -> TCC
 
|-
  
|-
 
|247
  
|247
  +
|1
 
|Arg -> Trp
  
|Arg -> Trp
 
|aCGG -> TGG
  
|aCGG -> TGG
 
|-
  
|-
−
|250
 +
|rowspan="3" | 250
  +
|1
 
|Gly -> Ser
  
|Gly -> Ser
 
|gGGT -> AGT
  
|gGGT -> AGT
 
|-
  
|-
−
|250
 +
|2
 
|Gly -> Asp
  
|Gly -> Asp
 
|GGT -> GAT
  
|GGT -> GAT
 
|-
  
|-
−
|250
 +
|2
 
|Gly -> Val
  
|Gly -> Val
 
|GGT -> GTT
  
|GGT -> GTT
 
|-
  
|-
 
|258
  
|258
  +
|1
 
|Asp -> His
  
|Asp -> His
 
|tGAC -> CAC
  
|tGAC -> CAC
 
|-
  
|-
−
|269
 +
|rowspan="2" | 269
  +
|1
 
|Gly -> Ser
  
|Gly -> Ser
 
|aGGT -> AGT
  
|aGGT -> AGT
 
|-
  
|-
−
|269
 +
|2
 
|Gly -> Asp
  
|Gly -> Asp
 
|GGT -> GAT
  
|GGT -> GAT
 
|-
  
|-
 
|301
  
|301
  +
|2
 
|Met -> Arg
  
|Met -> Arg
 
|ATG -> AGG
  
|ATG -> AGG
 
|-
  
|-
 
|329
  
|329
  +
|2
 
|Trp -> Ter
  
|Trp -> Ter
 
|TGG -> TAG
  
|TGG -> TAG
 
|-
  
|-
 
|393
  
|393
  +
|1
 
|Arg -> Ter
  
|Arg -> Ter
 
|gCGA -> TGA
  
|gCGA -> TGA
 
|-
  
|-
−
|420
 +
|rowspan="2" | 420
  +
|3
 
|Trp -> Cys
  
|Trp -> Cys
 
|TGGt -> TGC
  
|TGGt -> TGC
 
|-
  
|-
−
|420
 +
|3
 
|Trp -> Cys
  
|Trp -> Cys
 
|TGGt -> TGT
  
|TGGt -> TGT
 
|-
  
|-
 
|451
  
|451
  +
|1
 
|Leu -> Val
  
|Leu -> Val
 
|tCTG -> GTG
  
|tCTG -> GTG
 
|-
  
|-
−
|454
 +
|rowspan="2" | 454
  +
|2
 
|Gly -> Asp
  
|Gly -> Asp
 
|GGT -> GAT
  
|GGT -> GAT
 
|-
  
|-
−
|454
 +
|1
 
|Gly -> Ser
  
|Gly -> Ser
 
|tGGT -> AGT
  
|tGGT -> AGT
 
|-
  
|-
 
|474
  
|474
  +
|3
 
|Trp -> Cys
  
|Trp -> Cys
 
|TGGc -> TGC
  
|TGGc -> TGC
 
|-
  
|-
 
|482
  
|482
  +
|1
 
|Glu -> Lys
  
|Glu -> Lys
 
|cGAA -> AAA
  
|cGAA -> AAA
 
|-
  
|-
 
|485
  
|485
  +
|1
 
|Trp -> Arg
  
|Trp -> Arg
 
|gTGG -> CGG
  
|gTGG -> CGG
 
|-
  
|-
−
|499
 +
|rowspan="2" | 499
  +
|1
 
|Arg -> Cys
  
|Arg -> Cys
 
|aCGT -> TGT
  
|aCGT -> TGT
 
|-
  
|-
−
|499
 +
|2
 
|Arg -> His
  
|Arg -> His
 
|CGT -> CAT
  
|CGT -> CAT
 
|-
  
|-
−
|504
 +
|rowspan="2" | 504
  +
|1
 
|Arg -> Cys
  
|Arg -> Cys
 
|cCGC -> TGC
  
|cCGC -> TGC
 
|-
  
|-
 
|504
  
|504
  +
|2
 
|Arg -> His
  
|Arg -> His
 
|CGC -> CAC
  
|CGC -> CAC
Line 170: Line 200:
   
 
Mutations annotated only in SNP-DB:
  
Mutations annotated only in SNP-DB:
  +
  +
mutations annotated only in SNP-DB and not silent (pos in codon ist annotiert und sicher):
  +
  +
{| border="1" style="text-align:center; border-spacing:0;"
  +
|Codonposition
  +
|Mutationposition
  +
|Amino Acids
  +
|Codons
  +
|-
  +
|rowspan="2" | 506
  +
|rowspan="2" | 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)
  +
  +
{| border="1" style="text-align:center; border-spacing:0;"
  +
|Position
  +
|Amino Acids
  +
|Codons
  +
|-
  +
|506
  +
|Glu -> Glu
  +
|GAA -> GAG
  +
|-
  +
|}
  +
  +
  +
silent mutation (unklar an welcher stelle im codon wird nirgends annotiert):
   
 
{| border="1" style="text-align:center; border-spacing:0;"
  
{| border="1" style="text-align:center; border-spacing:0;"

Revision as of 17:29, 14 June 2011

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
504 2 Arg -> His CGC -> CAC

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 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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