Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000341105
Querying Taster for transcript #2: ENST00000430265
Querying Taster for transcript #3: ENST00000487848
MT speed 4.97 s - this script 8.416344 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
GATA2polymorphism_automatic0.270902814687001simple_aaeaffectedA164Tsingle base exchangers2335052show file
GATA2polymorphism_automatic0.270902814687001simple_aaeaffectedA164Tsingle base exchangers2335052show file
GATA2polymorphism_automatic0.270902814687001simple_aaeaffectedA164Tsingle base exchangers2335052show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.729097185312999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM066570)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:128204951C>TN/A show variant in all transcripts   IGV
HGNC symbol GATA2
Ensembl transcript ID ENST00000430265
Genbank transcript ID NM_001145662
UniProt peptide P23769
alteration type single base exchange
alteration region CDS
DNA changes c.490G>A
cDNA.741G>A
g.7078G>A
AA changes A164T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
164
frameshift no
known variant Reference ID: rs2335052
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC23781776120139

known disease mutation at this position, please check HGMD for details (HGMD ID CM066570)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)4.120.997
0.4640.515
(flanking)-0.0730.181
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased7075wt: 0.6130 / mu: 0.6372 (marginal change - not scored)wt: TGGCCTCCCTCACCCCTACAGCAGCCCACTCTGGCTCCCAC
mu: TGGCCTCCCTCACCCCTACAGCAACCCACTCTGGCTCCCAC
 acag|CAGC
Acc marginally increased7073wt: 0.4250 / mu: 0.4476 (marginal change - not scored)wt: AGTGGCCTCCCTCACCCCTACAGCAGCCCACTCTGGCTCCC
mu: AGTGGCCTCCCTCACCCCTACAGCAACCCACTCTGGCTCCC
 ctac|AGCA
Donor increased7074wt: 0.83 / mu: 0.98wt: CCTACAGCAGCCCAC
mu: CCTACAGCAACCCAC
 TACA|gcag
distance from splice site 261
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      164GSSVASLTPTAAHSGSHLFGFPPT
mutated  not conserved    164GSSVASLTPTATHSGSHLFGFPP
Ptroglodytes  all identical  ENSPTRG00000015355  164GSSVASLTPTAAHSGSHLFGFPP
Mmulatta  all identical  ENSMMUG00000021371  164GSSVASLTPTAAHSGSHLFGFPP
Fcatus  no alignment  ENSFCAG00000006154  n/a
Mmusculus  all identical  ENSMUSG00000015053  164GSSVASLTPTAAHSGSHLFGFPP
Ggallus  all conserved  ENSGALG00000005909  162TASVSSLTP-ASHSGSHLFGFPP
Trubripes  not conserved  ENSTRUG00000010255  162TVSASSLSPPS-HSSPHLYAFPP
Drerio  not conserved  ENSDARG00000059327  160TAPVSSLT-SATHSSPHPLYNFPP
Dmelanogaster  all identical  FBgn0001138  363AAHHQAAAVAAANMF----
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000016171  162------------HTSPHLFGFPP
protein features
start (aa)end (aa)featuredetails 
295319ZN_FINGGATA-type 1.might get lost (downstream of altered splice site)
349373ZN_FINGGATA-type 2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1401 / 1401
position (AA) of stopcodon in wt / mu AA sequence 467 / 467
position of stopcodon in wt / mu cDNA 1652 / 1652
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 252 / 252
chromosome 3
strand -1
last intron/exon boundary 1353
theoretical NMD boundary in CDS 1051
length of CDS 1401
coding sequence (CDS) position 490
cDNA position
(for ins/del: last normal base / first normal base)
741
gDNA position
(for ins/del: last normal base / first normal base)
7078
chromosomal position
(for ins/del: last normal base / first normal base)
128204951
original gDNA sequence snippet CCTCCCTCACCCCTACAGCAGCCCACTCTGGCTCCCACCTT
altered gDNA sequence snippet CCTCCCTCACCCCTACAGCAACCCACTCTGGCTCCCACCTT
original cDNA sequence snippet CCTCCCTCACCCCTACAGCAGCCCACTCTGGCTCCCACCTT
altered cDNA sequence snippet CCTCCCTCACCCCTACAGCAACCCACTCTGGCTCCCACCTT
wildtype AA sequence MEVAPEQPRW MAHPAVLNAQ HPDSHHPGLA HNYMEPAQLL PPDEVDVFFN HLDSQGNPYY
ANPAHARARV SYSPAHARLT GGQMCRPHLL HSPGLPWLDG GKAALSAAAA HHHNPWTVSP
FSKTPLHPSA AGGPGGPLSV YPGAGGGSGG GSGSSVASLT PTAAHSGSHL FGFPPTPPKE
VSPDPSTTGA ASPASSSAGG SAARGEDKDG VKYQVSLTES MKMESGSPLR PGLATMGTQP
ATHHPIPTYP SYVPAAAHDY SSGLFHPGGF LGGPASSFTP KQRSKARSCS EGRECVNCGA
TATPLWRRDG TGHYLCNACG LYHKMNGQNR PLIKPKRRLT TTTTLWRRNA NGDPVCNACG
LYYKLHNVNR PLTMKKEGIQ TRNRKMSNKS KKSKKGAECF EELSKCMQEK SSPFSAAALA
GHMAPVGHLP PFSHSGHILP TPTPIHPSSS LSFGHPHPSS MVTAMG*
mutated AA sequence MEVAPEQPRW MAHPAVLNAQ HPDSHHPGLA HNYMEPAQLL PPDEVDVFFN HLDSQGNPYY
ANPAHARARV SYSPAHARLT GGQMCRPHLL HSPGLPWLDG GKAALSAAAA HHHNPWTVSP
FSKTPLHPSA AGGPGGPLSV YPGAGGGSGG GSGSSVASLT PTATHSGSHL FGFPPTPPKE
VSPDPSTTGA ASPASSSAGG SAARGEDKDG VKYQVSLTES MKMESGSPLR PGLATMGTQP
ATHHPIPTYP SYVPAAAHDY SSGLFHPGGF LGGPASSFTP KQRSKARSCS EGRECVNCGA
TATPLWRRDG TGHYLCNACG LYHKMNGQNR PLIKPKRRLT TTTTLWRRNA NGDPVCNACG
LYYKLHNVNR PLTMKKEGIQ TRNRKMSNKS KKSKKGAECF EELSKCMQEK SSPFSAAALA
GHMAPVGHLP PFSHSGHILP TPTPIHPSSS LSFGHPHPSS MVTAMG*
speed 1.83 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.729097185312999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM066570)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:128204951C>TN/A show variant in all transcripts   IGV
HGNC symbol GATA2
Ensembl transcript ID ENST00000487848
Genbank transcript ID N/A
UniProt peptide P23769
alteration type single base exchange
alteration region CDS
DNA changes c.490G>A
cDNA.925G>A
g.7078G>A
AA changes A164T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
164
frameshift no
known variant Reference ID: rs2335052
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC23781776120139

known disease mutation at this position, please check HGMD for details (HGMD ID CM066570)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)4.120.997
0.4640.515
(flanking)-0.0730.181
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased7075wt: 0.6130 / mu: 0.6372 (marginal change - not scored)wt: TGGCCTCCCTCACCCCTACAGCAGCCCACTCTGGCTCCCAC
mu: TGGCCTCCCTCACCCCTACAGCAACCCACTCTGGCTCCCAC
 acag|CAGC
Acc marginally increased7073wt: 0.4250 / mu: 0.4476 (marginal change - not scored)wt: AGTGGCCTCCCTCACCCCTACAGCAGCCCACTCTGGCTCCC
mu: AGTGGCCTCCCTCACCCCTACAGCAACCCACTCTGGCTCCC
 ctac|AGCA
Donor increased7074wt: 0.83 / mu: 0.98wt: CCTACAGCAGCCCAC
mu: CCTACAGCAACCCAC
 TACA|gcag
distance from splice site 261
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      164GSSVASLTPTAAHSGSHLFGFPPT
mutated  not conserved    164GSSVASLTPTATHSGSHLFGFPP
Ptroglodytes  all identical  ENSPTRG00000015355  164GSSVASLTPTAAHSGSHLFGFPP
Mmulatta  all identical  ENSMMUG00000021371  164GSSVASLTPTAAHSGSHLFGFPP
Fcatus  no alignment  ENSFCAG00000006154  n/a
Mmusculus  all identical  ENSMUSG00000015053  164GSSVASLTPTAAHSGSHLFGFPP
Ggallus  all conserved  ENSGALG00000005909  162TASVSSLTP-ASHSGSHLFGFPP
Trubripes  not conserved  ENSTRUG00000010255  162TVSASSLSPPS-HSSPHLYAFPP
Drerio  not conserved  ENSDARG00000059327  160TAPVSSLT-SATHSSPHPLYNFPP
Dmelanogaster  all identical  FBgn0001138  363AAHHQAAAVAAANMF----
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000016171  162------------HTSPHLFGFPP
protein features
start (aa)end (aa)featuredetails 
295319ZN_FINGGATA-type 1.might get lost (downstream of altered splice site)
349373ZN_FINGGATA-type 2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1443 / 1443
position (AA) of stopcodon in wt / mu AA sequence 481 / 481
position of stopcodon in wt / mu cDNA 1878 / 1878
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 436 / 436
chromosome 3
strand -1
last intron/exon boundary 1579
theoretical NMD boundary in CDS 1093
length of CDS 1443
coding sequence (CDS) position 490
cDNA position
(for ins/del: last normal base / first normal base)
925
gDNA position
(for ins/del: last normal base / first normal base)
7078
chromosomal position
(for ins/del: last normal base / first normal base)
128204951
original gDNA sequence snippet CCTCCCTCACCCCTACAGCAGCCCACTCTGGCTCCCACCTT
altered gDNA sequence snippet CCTCCCTCACCCCTACAGCAACCCACTCTGGCTCCCACCTT
original cDNA sequence snippet CCTCCCTCACCCCTACAGCAGCCCACTCTGGCTCCCACCTT
altered cDNA sequence snippet CCTCCCTCACCCCTACAGCAACCCACTCTGGCTCCCACCTT
wildtype AA sequence MEVAPEQPRW MAHPAVLNAQ HPDSHHPGLA HNYMEPAQLL PPDEVDVFFN HLDSQGNPYY
ANPAHARARV SYSPAHARLT GGQMCRPHLL HSPGLPWLDG GKAALSAAAA HHHNPWTVSP
FSKTPLHPSA AGGPGGPLSV YPGAGGGSGG GSGSSVASLT PTAAHSGSHL FGFPPTPPKE
VSPDPSTTGA ASPASSSAGG SAARGEDKDG VKYQVSLTES MKMESGSPLR PGLATMGTQP
ATHHPIPTYP SYVPAAAHDY SSGLFHPGGF LGGPASSFTP KQRSKARSCS EGRECVNCGA
TATPLWRRDG TGHYLCNACG LYHKMNGQNR PLIKPKRRLS AARRAGTCCA NCQTTTTTLW
RRNANGDPVC NACGLYYKLH NVNRPLTMKK EGIQTRNRKM SNKSKKSKKG AECFEELSKC
MQEKSSPFSA AALAGHMAPV GHLPPFSHSG HILPTPTPIH PSSSLSFGHP HPSSMVTAMG
*
mutated AA sequence MEVAPEQPRW MAHPAVLNAQ HPDSHHPGLA HNYMEPAQLL PPDEVDVFFN HLDSQGNPYY
ANPAHARARV SYSPAHARLT GGQMCRPHLL HSPGLPWLDG GKAALSAAAA HHHNPWTVSP
FSKTPLHPSA AGGPGGPLSV YPGAGGGSGG GSGSSVASLT PTATHSGSHL FGFPPTPPKE
VSPDPSTTGA ASPASSSAGG SAARGEDKDG VKYQVSLTES MKMESGSPLR PGLATMGTQP
ATHHPIPTYP SYVPAAAHDY SSGLFHPGGF LGGPASSFTP KQRSKARSCS EGRECVNCGA
TATPLWRRDG TGHYLCNACG LYHKMNGQNR PLIKPKRRLS AARRAGTCCA NCQTTTTTLW
RRNANGDPVC NACGLYYKLH NVNRPLTMKK EGIQTRNRKM SNKSKKSKKG AECFEELSKC
MQEKSSPFSA AALAGHMAPV GHLPPFSHSG HILPTPTPIH PSSSLSFGHP HPSSMVTAMG
*
speed 1.53 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.729097185312999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM066570)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:128204951C>TN/A show variant in all transcripts   IGV
HGNC symbol GATA2
Ensembl transcript ID ENST00000341105
Genbank transcript ID NM_001145661
UniProt peptide P23769
alteration type single base exchange
alteration region CDS
DNA changes c.490G>A
cDNA.822G>A
g.7078G>A
AA changes A164T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
164
frameshift no
known variant Reference ID: rs2335052
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC23781776120139

known disease mutation at this position, please check HGMD for details (HGMD ID CM066570)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)4.120.997
0.4640.515
(flanking)-0.0730.181
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased7075wt: 0.6130 / mu: 0.6372 (marginal change - not scored)wt: TGGCCTCCCTCACCCCTACAGCAGCCCACTCTGGCTCCCAC
mu: TGGCCTCCCTCACCCCTACAGCAACCCACTCTGGCTCCCAC
 acag|CAGC
Acc marginally increased7073wt: 0.4250 / mu: 0.4476 (marginal change - not scored)wt: AGTGGCCTCCCTCACCCCTACAGCAGCCCACTCTGGCTCCC
mu: AGTGGCCTCCCTCACCCCTACAGCAACCCACTCTGGCTCCC
 ctac|AGCA
Donor increased7074wt: 0.83 / mu: 0.98wt: CCTACAGCAGCCCAC
mu: CCTACAGCAACCCAC
 TACA|gcag
distance from splice site 261
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      164GSSVASLTPTAAHSGSHLFGFPPT
mutated  not conserved    164GSSVASLTPTATHSGSHLFGFPP
Ptroglodytes  all identical  ENSPTRG00000015355  164GSSVASLTPTAAHSGSHLFGFPP
Mmulatta  all identical  ENSMMUG00000021371  164GSSVASLTPTAAHSGSHLFGFPP
Fcatus  no alignment  ENSFCAG00000006154  n/a
Mmusculus  all identical  ENSMUSG00000015053  164GSSVASLTPTAAHSGSHLFGFPP
Ggallus  all conserved  ENSGALG00000005909  162TASVSSLTP-ASHSGSHLFGFPP
Trubripes  not conserved  ENSTRUG00000010255  162TVSASSLSPPS-HSSPHLYAFPP
Drerio  not conserved  ENSDARG00000059327  160TAPVSSLT-SATHSSPHPLYNFPP
Dmelanogaster  all identical  FBgn0001138  363AAHHQAAAVAAANMF----
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000016171  162------------HTSPHLFGFPP
protein features
start (aa)end (aa)featuredetails 
295319ZN_FINGGATA-type 1.might get lost (downstream of altered splice site)
349373ZN_FINGGATA-type 2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1443 / 1443
position (AA) of stopcodon in wt / mu AA sequence 481 / 481
position of stopcodon in wt / mu cDNA 1775 / 1775
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 333 / 333
chromosome 3
strand -1
last intron/exon boundary 1476
theoretical NMD boundary in CDS 1093
length of CDS 1443
coding sequence (CDS) position 490
cDNA position
(for ins/del: last normal base / first normal base)
822
gDNA position
(for ins/del: last normal base / first normal base)
7078
chromosomal position
(for ins/del: last normal base / first normal base)
128204951
original gDNA sequence snippet CCTCCCTCACCCCTACAGCAGCCCACTCTGGCTCCCACCTT
altered gDNA sequence snippet CCTCCCTCACCCCTACAGCAACCCACTCTGGCTCCCACCTT
original cDNA sequence snippet CCTCCCTCACCCCTACAGCAGCCCACTCTGGCTCCCACCTT
altered cDNA sequence snippet CCTCCCTCACCCCTACAGCAACCCACTCTGGCTCCCACCTT
wildtype AA sequence MEVAPEQPRW MAHPAVLNAQ HPDSHHPGLA HNYMEPAQLL PPDEVDVFFN HLDSQGNPYY
ANPAHARARV SYSPAHARLT GGQMCRPHLL HSPGLPWLDG GKAALSAAAA HHHNPWTVSP
FSKTPLHPSA AGGPGGPLSV YPGAGGGSGG GSGSSVASLT PTAAHSGSHL FGFPPTPPKE
VSPDPSTTGA ASPASSSAGG SAARGEDKDG VKYQVSLTES MKMESGSPLR PGLATMGTQP
ATHHPIPTYP SYVPAAAHDY SSGLFHPGGF LGGPASSFTP KQRSKARSCS EGRECVNCGA
TATPLWRRDG TGHYLCNACG LYHKMNGQNR PLIKPKRRLS AARRAGTCCA NCQTTTTTLW
RRNANGDPVC NACGLYYKLH NVNRPLTMKK EGIQTRNRKM SNKSKKSKKG AECFEELSKC
MQEKSSPFSA AALAGHMAPV GHLPPFSHSG HILPTPTPIH PSSSLSFGHP HPSSMVTAMG
*
mutated AA sequence MEVAPEQPRW MAHPAVLNAQ HPDSHHPGLA HNYMEPAQLL PPDEVDVFFN HLDSQGNPYY
ANPAHARARV SYSPAHARLT GGQMCRPHLL HSPGLPWLDG GKAALSAAAA HHHNPWTVSP
FSKTPLHPSA AGGPGGPLSV YPGAGGGSGG GSGSSVASLT PTATHSGSHL FGFPPTPPKE
VSPDPSTTGA ASPASSSAGG SAARGEDKDG VKYQVSLTES MKMESGSPLR PGLATMGTQP
ATHHPIPTYP SYVPAAAHDY SSGLFHPGGF LGGPASSFTP KQRSKARSCS EGRECVNCGA
TATPLWRRDG TGHYLCNACG LYHKMNGQNR PLIKPKRRLS AARRAGTCCA NCQTTTTTLW
RRNANGDPVC NACGLYYKLH NVNRPLTMKK EGIQTRNRKM SNKSKKSKKG AECFEELSKC
MQEKSSPFSA AALAGHMAPV GHLPPFSHSG HILPTPTPIH PSSSLSFGHP HPSSMVTAMG
*
speed 1.61 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

Problems