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 11 transcript(s)...
Querying Taster for transcript #1: ENST00000519301
Querying Taster for transcript #2: ENST00000520407
Querying Taster for transcript #3: ENST00000523079
Querying Taster for transcript #4: ENST00000287842
Querying Taster for transcript #5: ENST00000405005
Querying Taster for transcript #6: ENST00000521670
Querying Taster for transcript #7: ENST00000338921
Querying Taster for transcript #8: ENST00000356819
Querying Taster for transcript #9: ENST00000287840
Querying Taster for transcript #10: ENST00000287845
Querying Taster for transcript #11: ENST00000341377
MT speed 0 s - this script 7.024694 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
NRG1polymorphism_automatic0.041384721904705simple_aaeaffectedR17Qsingle base exchangers3924999show file
NRG1polymorphism_automatic0.139810418864797simple_aaeaffectedR38Qsingle base exchangers3924999show file
NRG1polymorphism_automatic0.139810418864797simple_aaeaffectedR38Qsingle base exchangers3924999show file
NRG1polymorphism_automatic0.139810418864797simple_aaeaffectedR38Qsingle base exchangers3924999show file
NRG1polymorphism_automatic0.139810418864797simple_aaeaffectedR38Qsingle base exchangers3924999show file
NRG1polymorphism_automatic0.139810418864797simple_aaeaffectedR38Qsingle base exchangers3924999show file
NRG1polymorphism_automatic0.139810418864797simple_aaeaffectedR38Qsingle base exchangers3924999show file
NRG1polymorphism_automatic0.139810418864797simple_aaeaffectedR38Qsingle base exchangers3924999show file
NRG1polymorphism_automatic0.139810418864797simple_aaeaffectedR38Qsingle base exchangers3924999show file
NRG1polymorphism_automatic0.139810418864797simple_aaeaffectedR38Qsingle base exchangers3924999show file
NRG1polymorphism_automatic0.14700013825914simple_aaeaffectedR253Qsingle base exchangers3924999show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.958615278095295 (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 CM054795)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:32453358G>AN/A show variant in all transcripts   IGV
HGNC symbol NRG1
Ensembl transcript ID ENST00000519301
Genbank transcript ID NM_001160001
UniProt peptide Q02297
alteration type single base exchange
alteration region CDS
DNA changes c.50G>A
cDNA.59G>A
g.956457G>A
AA changes R17Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 17
frameshift no
known variant Reference ID: rs3924999
databasehomozygous (A/A)heterozygousallele carriers
1000G5318671398
ExAC104161193522351

known disease mutation at this position, please check HGMD for details (HGMD ID CM054795)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8950.982
2.2861
(flanking)0.7321
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased956460wt: 0.61 / mu: 0.77wt: TTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCCAGG
mu: TTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCCAGG		 gatt|GAAA
Acc marginally increased956457wt: 0.9581 / mu: 0.9697 (marginal change - not scored)wt: TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
mu: TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC		 cccg|ATTG
Acc marginally increased956452wt: 0.8266 / mu: 0.8304 (marginal change - not scored)wt: TTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAA
mu: TTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAA		 gcct|CCCC
Acc marginally increased956448wt: 0.9609 / mu: 0.9706 (marginal change - not scored)wt: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGA
mu: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGA		 cctt|GCCT
Donor increased956459wt: 0.56 / mu: 0.86wt: CCCGATTGAAAGAGA
mu: CCCAATTGAAAGAGA		 CGAT|tgaa
Donor increased956458wt: 0.72 / mu: 0.87wt: CCCCGATTGAAAGAG
mu: CCCCAATTGAAAGAG		 CCGA|ttga
Donor gained9564530.43mu: TGCCTCCCCAATTGA CCTC|ccca
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      17AGRVGTTALPPRLKEMKSQESAAG
mutated  all conserved    17AGRVGTTALPPQLKEMKSQESAA
Ptroglodytes  all identical  ENSPTRG00000020146  38ALPPRLKEMKSQESAA
Mmulatta  all identical  ENSMMUG00000000208  38ALPPRLKEMKSQESAA
Fcatus  all identical  ENSFCAG00000014970  4LPPRLKEMRSQESVA
Mmusculus  no alignment  ENSMUSG00000062991  n/a
Ggallus  no alignment  ENSGALG00000015422  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000068458  162PKLKNLRSVTVED
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000017504  n/a
protein features
start (aa)end (aa)featuredetails 
219PROPEP /FTId=PRO_0000019462.lost
20242TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
3434SITEBreakpoint for translocation to form gamma-heregulin.might get lost (downstream of altered splice site)
37128DOMAINIg-like C2-type.might get lost (downstream of altered splice site)
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
9494CONFLICTK -> A (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
107107CONFLICTS -> P (in Ref. 9; ABQ53539).might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
126126CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
164164CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
165177COMPBIASSer/Thr-rich.might get lost (downstream of altered splice site)
178181STRANDmight get lost (downstream of altered splice site)
178222DOMAINEGF-like.might get lost (downstream of altered splice site)
182182DISULFIDmight get lost (downstream of altered splice site)
184187HELIXmight get lost (downstream of altered splice site)
190190DISULFIDmight get lost (downstream of altered splice site)
190193STRANDmight get lost (downstream of altered splice site)
195205STRANDmight get lost (downstream of altered splice site)
196196DISULFIDmight get lost (downstream of altered splice site)
208211STRANDmight get lost (downstream of altered splice site)
210210DISULFIDmight get lost (downstream of altered splice site)
212212DISULFIDmight get lost (downstream of altered splice site)
216218STRANDmight get lost (downstream of altered splice site)
221221DISULFIDmight get lost (downstream of altered splice site)
233235STRANDmight get lost (downstream of altered splice site)
243265TRANSMEMHelical; Note=Internal signal sequence; (Potential).might get lost (downstream of altered splice site)
261261CONFLICTV -> L (in Ref. 9; ABQ53540).might get lost (downstream of altered splice site)
266640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
414414CONFLICTS -> F (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
535535CONFLICTQ -> R (in Ref. 2; AAA19951).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1773 / 1773
position (AA) of stopcodon in wt / mu AA sequence 591 / 591
position of stopcodon in wt / mu cDNA 1782 / 1782
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 10 / 10
chromosome 8
strand 1
last intron/exon boundary 1128
theoretical NMD boundary in CDS 1068
length of CDS 1773
coding sequence (CDS) position 50
cDNA position
(for ins/del: last normal base / first normal base)		 59
gDNA position
(for ins/del: last normal base / first normal base)		 956457
chromosomal position
(for ins/del: last normal base / first normal base)		 32453358
original gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
original cDNA sequence snippet CACCACAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered cDNA sequence snippet CACCACAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
wildtype AA sequence MGKGRAGRVG TTALPPRLKE MKSQESAAGS KLVLRCETSS EYSSLRFKWF KNGNELNRKN
KPQNIKIQKK PGKSELRINK ASLADSGEYM CKVISKLGND SASANITIVE SNATSTSTTG
TSHLVKCAEK EKTFCVNGGE CFMVKDLSNP SRYLCKCPNE FTGDRCQNYV MASFYKHLGI
EFMEAEELYQ KRVLTITGIC IALLVVGIMC VVAYCKTKKQ RKKLHDRLRQ SLRSERNNMM
NIANGPHHPN PPPENVQLVN QYVSKNVISS EHIVEREAET SFSTSHYTST AHHSTTVTQT
PSHSWSNGHT ESILSESHSV IVMSSVENSR HSSPTGGPRG RLNGTGGPRE CNSFLRHARE
TPDSYRDSPH SERYVSAMTT PARMSPVDFH TPSSPKSPPS EMSPPVSSMT VSMPSMAVSP
FMEEERPLLL VTPPRLREKK FDHHPQQFSS FHHNPAHDSN SLPASPLRIV EDEEYETTQE
YEPAQEPVKK LANSRRAKRT KPNGHIANRL EVDSNTSSQS SNSESETEDE RVGEDTPFLG
IQNPLAASLE ATPAFRLADS RTNPAGRFST QEEIQARLSS VIANQDPIAV *
mutated AA sequence MGKGRAGRVG TTALPPQLKE MKSQESAAGS KLVLRCETSS EYSSLRFKWF KNGNELNRKN
KPQNIKIQKK PGKSELRINK ASLADSGEYM CKVISKLGND SASANITIVE SNATSTSTTG
TSHLVKCAEK EKTFCVNGGE CFMVKDLSNP SRYLCKCPNE FTGDRCQNYV MASFYKHLGI
EFMEAEELYQ KRVLTITGIC IALLVVGIMC VVAYCKTKKQ RKKLHDRLRQ SLRSERNNMM
NIANGPHHPN PPPENVQLVN QYVSKNVISS EHIVEREAET SFSTSHYTST AHHSTTVTQT
PSHSWSNGHT ESILSESHSV IVMSSVENSR HSSPTGGPRG RLNGTGGPRE CNSFLRHARE
TPDSYRDSPH SERYVSAMTT PARMSPVDFH TPSSPKSPPS EMSPPVSSMT VSMPSMAVSP
FMEEERPLLL VTPPRLREKK FDHHPQQFSS FHHNPAHDSN SLPASPLRIV EDEEYETTQE
YEPAQEPVKK LANSRRAKRT KPNGHIANRL EVDSNTSSQS SNSESETEDE RVGEDTPFLG
IQNPLAASLE ATPAFRLADS RTNPAGRFST QEEIQARLSS VIANQDPIAV *
speed 1.06 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: 0.860189581135203 (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 CM054795)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:32453358G>AN/A show variant in all transcripts   IGV
HGNC symbol NRG1
Ensembl transcript ID ENST00000523079
Genbank transcript ID NM_001160008
UniProt peptide Q02297
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.630G>A
g.956457G>A
AA changes R38Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
known variant Reference ID: rs3924999
databasehomozygous (A/A)heterozygousallele carriers
1000G5318671398
ExAC104161193522351

known disease mutation at this position, please check HGMD for details (HGMD ID CM054795)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8950.982
2.2861
(flanking)0.7321
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased956460wt: 0.61 / mu: 0.77wt: TTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCCAGG
mu: TTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCCAGG		 gatt|GAAA
Acc marginally increased956457wt: 0.9581 / mu: 0.9697 (marginal change - not scored)wt: TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
mu: TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC		 cccg|ATTG
Acc marginally increased956452wt: 0.8266 / mu: 0.8304 (marginal change - not scored)wt: TTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAA
mu: TTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAA		 gcct|CCCC
Acc marginally increased956448wt: 0.9609 / mu: 0.9706 (marginal change - not scored)wt: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGA
mu: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGA		 cctt|GCCT
Donor increased956459wt: 0.56 / mu: 0.86wt: CCCGATTGAAAGAGA
mu: CCCAATTGAAAGAGA		 CGAT|tgaa
Donor increased956458wt: 0.72 / mu: 0.87wt: CCCCGATTGAAAGAG
mu: CCCCAATTGAAAGAG		 CCGA|ttga
Donor gained9564530.43mu: TGCCTCCCCAATTGA CCTC|ccca
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38AAGSQSPALPPRLKEMKSQESAAG
mutated  all conserved    38AAGSQSPALPPQLKEMKSQESAA
Ptroglodytes  all identical  ENSPTRG00000020146  38AAGSQSPALPPRLKEMKSQESAA
Mmulatta  all identical  ENSMMUG00000000208  38AAGSHSPALPPRLKEMKSQESAA
Fcatus  all identical  ENSFCAG00000014970  4LPPRLKEMRSQESVA
Mmusculus  no alignment  ENSMUSG00000062991  n/a
Ggallus  no alignment  ENSGALG00000015422  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000068458  162PKLKNLRSVTVED
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000017504  n/a
protein features
start (aa)end (aa)featuredetails 
20242TOPO_DOMExtracellular (Potential).lost
37128DOMAINIg-like C2-type.lost
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
9494CONFLICTK -> A (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
107107CONFLICTS -> P (in Ref. 9; ABQ53539).might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
126126CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
164164CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
165177COMPBIASSer/Thr-rich.might get lost (downstream of altered splice site)
178181STRANDmight get lost (downstream of altered splice site)
178222DOMAINEGF-like.might get lost (downstream of altered splice site)
182182DISULFIDmight get lost (downstream of altered splice site)
184187HELIXmight get lost (downstream of altered splice site)
190190DISULFIDmight get lost (downstream of altered splice site)
190193STRANDmight get lost (downstream of altered splice site)
195205STRANDmight get lost (downstream of altered splice site)
196196DISULFIDmight get lost (downstream of altered splice site)
208211STRANDmight get lost (downstream of altered splice site)
210210DISULFIDmight get lost (downstream of altered splice site)
212212DISULFIDmight get lost (downstream of altered splice site)
216218STRANDmight get lost (downstream of altered splice site)
221221DISULFIDmight get lost (downstream of altered splice site)
233235STRANDmight get lost (downstream of altered splice site)
243265TRANSMEMHelical; Note=Internal signal sequence; (Potential).might get lost (downstream of altered splice site)
261261CONFLICTV -> L (in Ref. 9; ABQ53540).might get lost (downstream of altered splice site)
266640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
414414CONFLICTS -> F (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
535535CONFLICTQ -> R (in Ref. 2; AAA19951).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1263 / 1263
position (AA) of stopcodon in wt / mu AA sequence 421 / 421
position of stopcodon in wt / mu cDNA 1780 / 1780
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 518 / 518
chromosome 8
strand 1
last intron/exon boundary 1570
theoretical NMD boundary in CDS 1002
length of CDS 1263
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 630
gDNA position
(for ins/del: last normal base / first normal base)		 956457
chromosomal position
(for ins/del: last normal base / first normal base)		 32453358
original gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
original cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
wildtype AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPRLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCPNEFTGDR CQNYVMASFY KAEELYQKRV
LTITGICIAL LVVGIMCVVA YCKTKKQRKK LHDRLRQSLR SERNNMMNIA NGPHHPNPPP
ENVQLVNQYV SKNVISSEHI VEREAETSFS TSHYTSTAHH STTVTQTPSH SWSNGHTESI
LSESHSVIVM SSVENSRHSS PTGGPRGRLN GTGGPRECNS FLRHARETPD SYRDSPHSER
*
mutated AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPQLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCPNEFTGDR CQNYVMASFY KAEELYQKRV
LTITGICIAL LVVGIMCVVA YCKTKKQRKK LHDRLRQSLR SERNNMMNIA NGPHHPNPPP
ENVQLVNQYV SKNVISSEHI VEREAETSFS TSHYTSTAHH STTVTQTPSH SWSNGHTESI
LSESHSVIVM SSVENSRHSS PTGGPRGRLN GTGGPRECNS FLRHARETPD SYRDSPHSER
*
speed 0.35 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: 0.860189581135203 (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 CM054795)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:32453358G>AN/A show variant in all transcripts   IGV
HGNC symbol NRG1
Ensembl transcript ID ENST00000287842
Genbank transcript ID NM_013957
UniProt peptide Q02297
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.573G>A
g.956457G>A
AA changes R38Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
known variant Reference ID: rs3924999
databasehomozygous (A/A)heterozygousallele carriers
1000G5318671398
ExAC104161193522351

known disease mutation at this position, please check HGMD for details (HGMD ID CM054795)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8950.982
2.2861
(flanking)0.7321
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased956460wt: 0.61 / mu: 0.77wt: TTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCCAGG
mu: TTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCCAGG		 gatt|GAAA
Acc marginally increased956457wt: 0.9581 / mu: 0.9697 (marginal change - not scored)wt: TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
mu: TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC		 cccg|ATTG
Acc marginally increased956452wt: 0.8266 / mu: 0.8304 (marginal change - not scored)wt: TTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAA
mu: TTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAA		 gcct|CCCC
Acc marginally increased956448wt: 0.9609 / mu: 0.9706 (marginal change - not scored)wt: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGA
mu: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGA		 cctt|GCCT
Donor increased956459wt: 0.56 / mu: 0.86wt: CCCGATTGAAAGAGA
mu: CCCAATTGAAAGAGA		 CGAT|tgaa
Donor increased956458wt: 0.72 / mu: 0.87wt: CCCCGATTGAAAGAG
mu: CCCCAATTGAAAGAG		 CCGA|ttga
Donor gained9564530.43mu: TGCCTCCCCAATTGA CCTC|ccca
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38AAGSQSPALPPRLKEMKSQESAAG
mutated  all conserved    38AAGSQSPALPPQLKEMKSQESAA
Ptroglodytes  all identical  ENSPTRG00000020146  38AAGSQSPALPPRLKEMKSQESAA
Mmulatta  all identical  ENSMMUG00000000208  38AAGSHSPALPPRLKEMKSQESAA
Fcatus  all identical  ENSFCAG00000014970  4LPPRLKEMRSQESVA
Mmusculus  no alignment  ENSMUSG00000062991  n/a
Ggallus  no alignment  ENSGALG00000015422  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000068458  162PKLKNLRSVTVED
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000017504  n/a
protein features
start (aa)end (aa)featuredetails 
20242TOPO_DOMExtracellular (Potential).lost
37128DOMAINIg-like C2-type.lost
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
9494CONFLICTK -> A (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
107107CONFLICTS -> P (in Ref. 9; ABQ53539).might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
126126CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
164164CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
165177COMPBIASSer/Thr-rich.might get lost (downstream of altered splice site)
178181STRANDmight get lost (downstream of altered splice site)
178222DOMAINEGF-like.might get lost (downstream of altered splice site)
182182DISULFIDmight get lost (downstream of altered splice site)
184187HELIXmight get lost (downstream of altered splice site)
190190DISULFIDmight get lost (downstream of altered splice site)
190193STRANDmight get lost (downstream of altered splice site)
195205STRANDmight get lost (downstream of altered splice site)
196196DISULFIDmight get lost (downstream of altered splice site)
208211STRANDmight get lost (downstream of altered splice site)
210210DISULFIDmight get lost (downstream of altered splice site)
212212DISULFIDmight get lost (downstream of altered splice site)
216218STRANDmight get lost (downstream of altered splice site)
221221DISULFIDmight get lost (downstream of altered splice site)
233235STRANDmight get lost (downstream of altered splice site)
243265TRANSMEMHelical; Note=Internal signal sequence; (Potential).might get lost (downstream of altered splice site)
261261CONFLICTV -> L (in Ref. 9; ABQ53540).might get lost (downstream of altered splice site)
266640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
414414CONFLICTS -> F (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
535535CONFLICTQ -> R (in Ref. 2; AAA19951).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1914 / 1914
position (AA) of stopcodon in wt / mu AA sequence 638 / 638
position of stopcodon in wt / mu cDNA 2374 / 2374
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 461 / 461
chromosome 8
strand 1
last intron/exon boundary 1720
theoretical NMD boundary in CDS 1209
length of CDS 1914
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 573
gDNA position
(for ins/del: last normal base / first normal base)		 956457
chromosomal position
(for ins/del: last normal base / first normal base)		 32453358
original gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
original cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
wildtype AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPRLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCPNEFTGDR CQNYVMASFY KAEELYQKRV
LTITGICIAL LVVGIMCVVA YCKTKKQRKK LHDRLRQSLR SERNNMMNIA NGPHHPNPPP
ENVQLVNQYV SKNVISSEHI VEREAETSFS TSHYTSTAHH STTVTQTPSH SWSNGHTESI
LSESHSVIVM SSVENSRHSS PTGGPRGRLN GTGGPRECNS FLRHARETPD SYRDSPHSER
YVSAMTTPAR MSPVDFHTPS SPKSPPSEMS PPVSSMTVSM PSMAVSPFME EERPLLLVTP
PRLREKKFDH HPQQFSSFHH NPAHDSNSLP ASPLRIVEDE EYETTQEYEP AQEPVKKLAN
SRRAKRTKPN GHIANRLEVD SNTSSQSSNS ESETEDERVG EDTPFLGIQN PLAASLEATP
AFRLADSRTN PAGRFSTQEE IQARLSSVIA NQDPIAV*
mutated AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPQLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCPNEFTGDR CQNYVMASFY KAEELYQKRV
LTITGICIAL LVVGIMCVVA YCKTKKQRKK LHDRLRQSLR SERNNMMNIA NGPHHPNPPP
ENVQLVNQYV SKNVISSEHI VEREAETSFS TSHYTSTAHH STTVTQTPSH SWSNGHTESI
LSESHSVIVM SSVENSRHSS PTGGPRGRLN GTGGPRECNS FLRHARETPD SYRDSPHSER
YVSAMTTPAR MSPVDFHTPS SPKSPPSEMS PPVSSMTVSM PSMAVSPFME EERPLLLVTP
PRLREKKFDH HPQQFSSFHH NPAHDSNSLP ASPLRIVEDE EYETTQEYEP AQEPVKKLAN
SRRAKRTKPN GHIANRLEVD SNTSSQSSNS ESETEDERVG EDTPFLGIQN PLAASLEATP
AFRLADSRTN PAGRFSTQEE IQARLSSVIA NQDPIAV*
speed 0.36 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: 0.860189581135203 (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 CM054795)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:32453358G>AN/A show variant in all transcripts   IGV
HGNC symbol NRG1
Ensembl transcript ID ENST00000405005
Genbank transcript ID N/A
UniProt peptide Q02297
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.475G>A
g.956457G>A
AA changes R38Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
known variant Reference ID: rs3924999
databasehomozygous (A/A)heterozygousallele carriers
1000G5318671398
ExAC104161193522351

known disease mutation at this position, please check HGMD for details (HGMD ID CM054795)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8950.982
2.2861
(flanking)0.7321
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased956460wt: 0.61 / mu: 0.77wt: TTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCCAGG
mu: TTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCCAGG		 gatt|GAAA
Acc marginally increased956457wt: 0.9581 / mu: 0.9697 (marginal change - not scored)wt: TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
mu: TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC		 cccg|ATTG
Acc marginally increased956452wt: 0.8266 / mu: 0.8304 (marginal change - not scored)wt: TTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAA
mu: TTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAA		 gcct|CCCC
Acc marginally increased956448wt: 0.9609 / mu: 0.9706 (marginal change - not scored)wt: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGA
mu: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGA		 cctt|GCCT
Donor increased956459wt: 0.56 / mu: 0.86wt: CCCGATTGAAAGAGA
mu: CCCAATTGAAAGAGA		 CGAT|tgaa
Donor increased956458wt: 0.72 / mu: 0.87wt: CCCCGATTGAAAGAG
mu: CCCCAATTGAAAGAG		 CCGA|ttga
Donor gained9564530.43mu: TGCCTCCCCAATTGA CCTC|ccca
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38AAGSQSPALPPRLKEMKSQESAAG
mutated  all conserved    38AAGSQSPALPPQLKEMKSQESAA
Ptroglodytes  all identical  ENSPTRG00000020146  38AAGSQSPALPPRLKEMKSQESAA
Mmulatta  all identical  ENSMMUG00000000208  38AAGSHSPALPPRLKEMKSQESAA
Fcatus  all identical  ENSFCAG00000014970  4LPPRLKEMRSQESVA
Mmusculus  no alignment  ENSMUSG00000062991  n/a
Ggallus  no alignment  ENSGALG00000015422  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000068458  162PKLKNLRSVTVED
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000017504  n/a
protein features
start (aa)end (aa)featuredetails 
20242TOPO_DOMExtracellular (Potential).lost
37128DOMAINIg-like C2-type.lost
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
9494CONFLICTK -> A (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
107107CONFLICTS -> P (in Ref. 9; ABQ53539).might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
126126CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
164164CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
165177COMPBIASSer/Thr-rich.might get lost (downstream of altered splice site)
178181STRANDmight get lost (downstream of altered splice site)
178222DOMAINEGF-like.might get lost (downstream of altered splice site)
182182DISULFIDmight get lost (downstream of altered splice site)
184187HELIXmight get lost (downstream of altered splice site)
190190DISULFIDmight get lost (downstream of altered splice site)
190193STRANDmight get lost (downstream of altered splice site)
195205STRANDmight get lost (downstream of altered splice site)
196196DISULFIDmight get lost (downstream of altered splice site)
208211STRANDmight get lost (downstream of altered splice site)
210210DISULFIDmight get lost (downstream of altered splice site)
212212DISULFIDmight get lost (downstream of altered splice site)
216218STRANDmight get lost (downstream of altered splice site)
221221DISULFIDmight get lost (downstream of altered splice site)
233235STRANDmight get lost (downstream of altered splice site)
243265TRANSMEMHelical; Note=Internal signal sequence; (Potential).might get lost (downstream of altered splice site)
261261CONFLICTV -> L (in Ref. 9; ABQ53540).might get lost (downstream of altered splice site)
266640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
414414CONFLICTS -> F (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
535535CONFLICTQ -> R (in Ref. 2; AAA19951).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1923 / 1923
position (AA) of stopcodon in wt / mu AA sequence 641 / 641
position of stopcodon in wt / mu cDNA 2285 / 2285
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 363 / 363
chromosome 8
strand 1
last intron/exon boundary 1631
theoretical NMD boundary in CDS 1218
length of CDS 1923
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 475
gDNA position
(for ins/del: last normal base / first normal base)		 956457
chromosomal position
(for ins/del: last normal base / first normal base)		 32453358
original gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
original cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
wildtype AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPRLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCQPGFTGAR CTENVPMKVQ NQEKAEELYQ
KRVLTITGIC IALLVVGIMC VVAYCKTKKQ RKKLHDRLRQ SLRSERNNMM NIANGPHHPN
PPPENVQLVN QYVSKNVISS EHIVEREAET SFSTSHYTST AHHSTTVTQT PSHSWSNGHT
ESILSESHSV IVMSSVENSR HSSPTGGPRG RLNGTGGPRE CNSFLRHARE TPDSYRDSPH
SERYVSAMTT PARMSPVDFH TPSSPKSPPS EMSPPVSSMT VSMPSMAVSP FMEEERPLLL
VTPPRLREKK FDHHPQQFSS FHHNPAHDSN SLPASPLRIV EDEEYETTQE YEPAQEPVKK
LANSRRAKRT KPNGHIANRL EVDSNTSSQS SNSESETEDE RVGEDTPFLG IQNPLAASLE
ATPAFRLADS RTNPAGRFST QEEIQARLSS VIANQDPIAV *
mutated AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPQLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCQPGFTGAR CTENVPMKVQ NQEKAEELYQ
KRVLTITGIC IALLVVGIMC VVAYCKTKKQ RKKLHDRLRQ SLRSERNNMM NIANGPHHPN
PPPENVQLVN QYVSKNVISS EHIVEREAET SFSTSHYTST AHHSTTVTQT PSHSWSNGHT
ESILSESHSV IVMSSVENSR HSSPTGGPRG RLNGTGGPRE CNSFLRHARE TPDSYRDSPH
SERYVSAMTT PARMSPVDFH TPSSPKSPPS EMSPPVSSMT VSMPSMAVSP FMEEERPLLL
VTPPRLREKK FDHHPQQFSS FHHNPAHDSN SLPASPLRIV EDEEYETTQE YEPAQEPVKK
LANSRRAKRT KPNGHIANRL EVDSNTSSQS SNSESETEDE RVGEDTPFLG IQNPLAASLE
ATPAFRLADS RTNPAGRFST QEEIQARLSS VIANQDPIAV *
speed 0.41 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: 0.860189581135203 (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 CM054795)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:32453358G>AN/A show variant in all transcripts   IGV
HGNC symbol NRG1
Ensembl transcript ID ENST00000521670
Genbank transcript ID NM_013960
UniProt peptide Q02297
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.221G>A
g.956457G>A
AA changes R38Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
known variant Reference ID: rs3924999
databasehomozygous (A/A)heterozygousallele carriers
1000G5318671398
ExAC104161193522351

known disease mutation at this position, please check HGMD for details (HGMD ID CM054795)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8950.982
2.2861
(flanking)0.7321
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased956460wt: 0.61 / mu: 0.77wt: TTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCCAGG
mu: TTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCCAGG		 gatt|GAAA
Acc marginally increased956457wt: 0.9581 / mu: 0.9697 (marginal change - not scored)wt: TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
mu: TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC		 cccg|ATTG
Acc marginally increased956452wt: 0.8266 / mu: 0.8304 (marginal change - not scored)wt: TTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAA
mu: TTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAA		 gcct|CCCC
Acc marginally increased956448wt: 0.9609 / mu: 0.9706 (marginal change - not scored)wt: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGA
mu: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGA		 cctt|GCCT
Donor increased956459wt: 0.56 / mu: 0.86wt: CCCGATTGAAAGAGA
mu: CCCAATTGAAAGAGA		 CGAT|tgaa
Donor increased956458wt: 0.72 / mu: 0.87wt: CCCCGATTGAAAGAG
mu: CCCCAATTGAAAGAG		 CCGA|ttga
Donor gained9564530.43mu: TGCCTCCCCAATTGA CCTC|ccca
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38AAGSQSPALPPRLKEMKSQESAAG
mutated  all conserved    38AAGSQSPALPPQLKEMKSQESAA
Ptroglodytes  all identical  ENSPTRG00000020146  38AAGSQSPALPPRLKEMKSQESAA
Mmulatta  all identical  ENSMMUG00000000208  38AAGSHSPALPPRLKEMKSQESAA
Fcatus  all identical  ENSFCAG00000014970  4LPPRLKEMRSQESVA
Mmusculus  no alignment  ENSMUSG00000062991  n/a
Ggallus  no alignment  ENSGALG00000015422  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000068458  162PKLKNLRSVTVED
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000017504  n/a
protein features
start (aa)end (aa)featuredetails 
20242TOPO_DOMExtracellular (Potential).lost
37128DOMAINIg-like C2-type.lost
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
9494CONFLICTK -> A (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
107107CONFLICTS -> P (in Ref. 9; ABQ53539).might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
126126CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
164164CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
165177COMPBIASSer/Thr-rich.might get lost (downstream of altered splice site)
178181STRANDmight get lost (downstream of altered splice site)
178222DOMAINEGF-like.might get lost (downstream of altered splice site)
182182DISULFIDmight get lost (downstream of altered splice site)
184187HELIXmight get lost (downstream of altered splice site)
190190DISULFIDmight get lost (downstream of altered splice site)
190193STRANDmight get lost (downstream of altered splice site)
195205STRANDmight get lost (downstream of altered splice site)
196196DISULFIDmight get lost (downstream of altered splice site)
208211STRANDmight get lost (downstream of altered splice site)
210210DISULFIDmight get lost (downstream of altered splice site)
212212DISULFIDmight get lost (downstream of altered splice site)
216218STRANDmight get lost (downstream of altered splice site)
221221DISULFIDmight get lost (downstream of altered splice site)
233235STRANDmight get lost (downstream of altered splice site)
243265TRANSMEMHelical; Note=Internal signal sequence; (Potential).might get lost (downstream of altered splice site)
261261CONFLICTV -> L (in Ref. 9; ABQ53540).might get lost (downstream of altered splice site)
266640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
414414CONFLICTS -> F (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
535535CONFLICTQ -> R (in Ref. 2; AAA19951).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1389 / 1389
position (AA) of stopcodon in wt / mu AA sequence 463 / 463
position of stopcodon in wt / mu cDNA 1497 / 1497
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 109 / 109
chromosome 8
strand 1
last intron/exon boundary 1519
theoretical NMD boundary in CDS 1360
length of CDS 1389
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 221
gDNA position
(for ins/del: last normal base / first normal base)		 956457
chromosomal position
(for ins/del: last normal base / first normal base)		 32453358
original gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
original cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
wildtype AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPRLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCQPGFTGAR CTENVPMKVQ NQEKAEELYQ
KRVLTITGIC IALLVVGIMC VVAYCKTKKQ RKKLHDRLRQ SLRSERNNMM NIANGPHHPN
PPPENVQLVN QYVSKNVISS EHIVEREAET SFSTSHYTST AHHSTTVTQT PSHSWSNGHT
ESILSESHSV IVMSSVENSR HSSPTGGPRG RLNGTGGPRE CNSFLRHARE TPDSYRDSPH
SERHNLIAEL RRNKAHRSKC MQIQLSATHL RSSSIPHLGF IL*
mutated AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPQLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCQPGFTGAR CTENVPMKVQ NQEKAEELYQ
KRVLTITGIC IALLVVGIMC VVAYCKTKKQ RKKLHDRLRQ SLRSERNNMM NIANGPHHPN
PPPENVQLVN QYVSKNVISS EHIVEREAET SFSTSHYTST AHHSTTVTQT PSHSWSNGHT
ESILSESHSV IVMSSVENSR HSSPTGGPRG RLNGTGGPRE CNSFLRHARE TPDSYRDSPH
SERHNLIAEL RRNKAHRSKC MQIQLSATHL RSSSIPHLGF IL*
speed 0.93 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: 0.860189581135203 (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 CM054795)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:32453358G>AN/A show variant in all transcripts   IGV
HGNC symbol NRG1
Ensembl transcript ID ENST00000338921
Genbank transcript ID N/A
UniProt peptide Q02297
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.630G>A
g.956457G>A
AA changes R38Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
known variant Reference ID: rs3924999
databasehomozygous (A/A)heterozygousallele carriers
1000G5318671398
ExAC104161193522351

known disease mutation at this position, please check HGMD for details (HGMD ID CM054795)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8950.982
2.2861
(flanking)0.7321
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased956460wt: 0.61 / mu: 0.77wt: TTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCCAGG
mu: TTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCCAGG		 gatt|GAAA
Acc marginally increased956457wt: 0.9581 / mu: 0.9697 (marginal change - not scored)wt: TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
mu: TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC		 cccg|ATTG
Acc marginally increased956452wt: 0.8266 / mu: 0.8304 (marginal change - not scored)wt: TTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAA
mu: TTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAA		 gcct|CCCC
Acc marginally increased956448wt: 0.9609 / mu: 0.9706 (marginal change - not scored)wt: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGA
mu: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGA		 cctt|GCCT
Donor increased956459wt: 0.56 / mu: 0.86wt: CCCGATTGAAAGAGA
mu: CCCAATTGAAAGAGA		 CGAT|tgaa
Donor increased956458wt: 0.72 / mu: 0.87wt: CCCCGATTGAAAGAG
mu: CCCCAATTGAAAGAG		 CCGA|ttga
Donor gained9564530.43mu: TGCCTCCCCAATTGA CCTC|ccca
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38AAGSQSPALPPRLKEMKSQESAAG
mutated  all conserved    38AAGSQSPALPPQLKEMKSQESAA
Ptroglodytes  all identical  ENSPTRG00000020146  38AAGSQSPALPPRLKEMKSQESAA
Mmulatta  all identical  ENSMMUG00000000208  38AAGSHSPALPPRLKEMKSQESAA
Fcatus  all identical  ENSFCAG00000014970  4LPPRLKEMRSQESVA
Mmusculus  no alignment  ENSMUSG00000062991  n/a
Ggallus  no alignment  ENSGALG00000015422  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000068458  162PKLKNLRSVTVED
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000017504  n/a
protein features
start (aa)end (aa)featuredetails 
20242TOPO_DOMExtracellular (Potential).lost
37128DOMAINIg-like C2-type.lost
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
9494CONFLICTK -> A (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
107107CONFLICTS -> P (in Ref. 9; ABQ53539).might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
126126CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
164164CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
165177COMPBIASSer/Thr-rich.might get lost (downstream of altered splice site)
178181STRANDmight get lost (downstream of altered splice site)
178222DOMAINEGF-like.might get lost (downstream of altered splice site)
182182DISULFIDmight get lost (downstream of altered splice site)
184187HELIXmight get lost (downstream of altered splice site)
190190DISULFIDmight get lost (downstream of altered splice site)
190193STRANDmight get lost (downstream of altered splice site)
195205STRANDmight get lost (downstream of altered splice site)
196196DISULFIDmight get lost (downstream of altered splice site)
208211STRANDmight get lost (downstream of altered splice site)
210210DISULFIDmight get lost (downstream of altered splice site)
212212DISULFIDmight get lost (downstream of altered splice site)
216218STRANDmight get lost (downstream of altered splice site)
221221DISULFIDmight get lost (downstream of altered splice site)
233235STRANDmight get lost (downstream of altered splice site)
243265TRANSMEMHelical; Note=Internal signal sequence; (Potential).might get lost (downstream of altered splice site)
261261CONFLICTV -> L (in Ref. 9; ABQ53540).might get lost (downstream of altered splice site)
266640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
414414CONFLICTS -> F (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
535535CONFLICTQ -> R (in Ref. 2; AAA19951).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1947 / 1947
position (AA) of stopcodon in wt / mu AA sequence 649 / 649
position of stopcodon in wt / mu cDNA 2464 / 2464
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 518 / 518
chromosome 8
strand 1
last intron/exon boundary 1810
theoretical NMD boundary in CDS 1242
length of CDS 1947
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 630
gDNA position
(for ins/del: last normal base / first normal base)		 956457
chromosomal position
(for ins/del: last normal base / first normal base)		 32453358
original gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
original cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
wildtype AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPRLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCQPGFTGAR CTENVPMKVQ NQEKHSGEPF
PEAEELYQKR VLTITGICIA LLVVGIMCVV AYCKTKKQRK KLHDRLRQSL RSERNNMMNI
ANGPHHPNPP PENVQLVNQY VSKNVISSEH IVEREAETSF STSHYTSTAH HSTTVTQTPS
HSWSNGHTES ILSESHSVIV MSSVENSRHS SPTGGPRGRL NGTGGPRECN SFLRHARETP
DSYRDSPHSE RYVSAMTTPA RMSPVDFHTP SSPKSPPSEM SPPVSSMTVS MPSMAVSPFM
EEERPLLLVT PPRLREKKFD HHPQQFSSFH HNPAHDSNSL PASPLRIVED EEYETTQEYE
PAQEPVKKLA NSRRAKRTKP NGHIANRLEV DSNTSSQSSN SESETEDERV GEDTPFLGIQ
NPLAASLEAT PAFRLADSRT NPAGRFSTQE EIQARLSSVI ANQDPIAV*
mutated AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPQLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCQPGFTGAR CTENVPMKVQ NQEKHSGEPF
PEAEELYQKR VLTITGICIA LLVVGIMCVV AYCKTKKQRK KLHDRLRQSL RSERNNMMNI
ANGPHHPNPP PENVQLVNQY VSKNVISSEH IVEREAETSF STSHYTSTAH HSTTVTQTPS
HSWSNGHTES ILSESHSVIV MSSVENSRHS SPTGGPRGRL NGTGGPRECN SFLRHARETP
DSYRDSPHSE RYVSAMTTPA RMSPVDFHTP SSPKSPPSEM SPPVSSMTVS MPSMAVSPFM
EEERPLLLVT PPRLREKKFD HHPQQFSSFH HNPAHDSNSL PASPLRIVED EEYETTQEYE
PAQEPVKKLA NSRRAKRTKP NGHIANRLEV DSNTSSQSSN SESETEDERV GEDTPFLGIQ
NPLAASLEAT PAFRLADSRT NPAGRFSTQE EIQARLSSVI ANQDPIAV*
speed 0.27 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: 0.860189581135203 (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 CM054795)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:32453358G>AN/A show variant in all transcripts   IGV
HGNC symbol NRG1
Ensembl transcript ID ENST00000356819
Genbank transcript ID NM_001159999
UniProt peptide Q02297
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.630G>A
g.956457G>A
AA changes R38Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
known variant Reference ID: rs3924999
databasehomozygous (A/A)heterozygousallele carriers
1000G5318671398
ExAC104161193522351

known disease mutation at this position, please check HGMD for details (HGMD ID CM054795)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8950.982
2.2861
(flanking)0.7321
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased956460wt: 0.61 / mu: 0.77wt: TTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCCAGG
mu: TTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCCAGG		 gatt|GAAA
Acc marginally increased956457wt: 0.9581 / mu: 0.9697 (marginal change - not scored)wt: TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
mu: TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC		 cccg|ATTG
Acc marginally increased956452wt: 0.8266 / mu: 0.8304 (marginal change - not scored)wt: TTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAA
mu: TTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAA		 gcct|CCCC
Acc marginally increased956448wt: 0.9609 / mu: 0.9706 (marginal change - not scored)wt: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGA
mu: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGA		 cctt|GCCT
Donor increased956459wt: 0.56 / mu: 0.86wt: CCCGATTGAAAGAGA
mu: CCCAATTGAAAGAGA		 CGAT|tgaa
Donor increased956458wt: 0.72 / mu: 0.87wt: CCCCGATTGAAAGAG
mu: CCCCAATTGAAAGAG		 CCGA|ttga
Donor gained9564530.43mu: TGCCTCCCCAATTGA CCTC|ccca
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38AAGSQSPALPPRLKEMKSQESAAG
mutated  all conserved    38AAGSQSPALPPQLKEMKSQESAA
Ptroglodytes  all identical  ENSPTRG00000020146  38AAGSQSPALPPRLKEMKSQESAA
Mmulatta  all identical  ENSMMUG00000000208  38AAGSHSPALPPRLKEMKSQESAA
Fcatus  all identical  ENSFCAG00000014970  4LPPRLKEMRSQESVA
Mmusculus  no alignment  ENSMUSG00000062991  n/a
Ggallus  no alignment  ENSGALG00000015422  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000068458  162PKLKNLRSVTVED
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000017504  n/a
protein features
start (aa)end (aa)featuredetails 
20242TOPO_DOMExtracellular (Potential).lost
37128DOMAINIg-like C2-type.lost
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
9494CONFLICTK -> A (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
107107CONFLICTS -> P (in Ref. 9; ABQ53539).might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
126126CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
164164CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
165177COMPBIASSer/Thr-rich.might get lost (downstream of altered splice site)
178181STRANDmight get lost (downstream of altered splice site)
178222DOMAINEGF-like.might get lost (downstream of altered splice site)
182182DISULFIDmight get lost (downstream of altered splice site)
184187HELIXmight get lost (downstream of altered splice site)
190190DISULFIDmight get lost (downstream of altered splice site)
190193STRANDmight get lost (downstream of altered splice site)
195205STRANDmight get lost (downstream of altered splice site)
196196DISULFIDmight get lost (downstream of altered splice site)
208211STRANDmight get lost (downstream of altered splice site)
210210DISULFIDmight get lost (downstream of altered splice site)
212212DISULFIDmight get lost (downstream of altered splice site)
216218STRANDmight get lost (downstream of altered splice site)
221221DISULFIDmight get lost (downstream of altered splice site)
233235STRANDmight get lost (downstream of altered splice site)
243265TRANSMEMHelical; Note=Internal signal sequence; (Potential).might get lost (downstream of altered splice site)
261261CONFLICTV -> L (in Ref. 9; ABQ53540).might get lost (downstream of altered splice site)
266640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
414414CONFLICTS -> F (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
535535CONFLICTQ -> R (in Ref. 2; AAA19951).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1938 / 1938
position (AA) of stopcodon in wt / mu AA sequence 646 / 646
position of stopcodon in wt / mu cDNA 2455 / 2455
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 518 / 518
chromosome 8
strand 1
last intron/exon boundary 1801
theoretical NMD boundary in CDS 1233
length of CDS 1938
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 630
gDNA position
(for ins/del: last normal base / first normal base)		 956457
chromosomal position
(for ins/del: last normal base / first normal base)		 32453358
original gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
original cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
wildtype AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPRLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCPNEFTGDR CQNYVMASFY KHLGIEFMEA
EELYQKRVLT ITGICIALLV VGIMCVVAYC KTKKQRKKLH DRLRQSLRSE RNNMMNIANG
PHHPNPPPEN VQLVNQYVSK NVISSEHIVE REAETSFSTS HYTSTAHHST TVTQTPSHSW
SNGHTESILS ESHSVIVMSS VENSRHSSPT GGPRGRLNGT GGPRECNSFL RHARETPDSY
RDSPHSERYV SAMTTPARMS PVDFHTPSSP KSPPSEMSPP VSSMTVSMPS MAVSPFMEEE
RPLLLVTPPR LREKKFDHHP QQFSSFHHNP AHDSNSLPAS PLRIVEDEEY ETTQEYEPAQ
EPVKKLANSR RAKRTKPNGH IANRLEVDSN TSSQSSNSES ETEDERVGED TPFLGIQNPL
AASLEATPAF RLADSRTNPA GRFSTQEEIQ ARLSSVIANQ DPIAV*
mutated AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPQLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCPNEFTGDR CQNYVMASFY KHLGIEFMEA
EELYQKRVLT ITGICIALLV VGIMCVVAYC KTKKQRKKLH DRLRQSLRSE RNNMMNIANG
PHHPNPPPEN VQLVNQYVSK NVISSEHIVE REAETSFSTS HYTSTAHHST TVTQTPSHSW
SNGHTESILS ESHSVIVMSS VENSRHSSPT GGPRGRLNGT GGPRECNSFL RHARETPDSY
RDSPHSERYV SAMTTPARMS PVDFHTPSSP KSPPSEMSPP VSSMTVSMPS MAVSPFMEEE
RPLLLVTPPR LREKKFDHHP QQFSSFHHNP AHDSNSLPAS PLRIVEDEEY ETTQEYEPAQ
EPVKKLANSR RAKRTKPNGH IANRLEVDSN TSSQSSNSES ETEDERVGED TPFLGIQNPL
AASLEATPAF RLADSRTNPA GRFSTQEEIQ ARLSSVIANQ DPIAV*
speed 0.27 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: 0.860189581135203 (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 CM054795)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:32453358G>AN/A show variant in all transcripts   IGV
HGNC symbol NRG1
Ensembl transcript ID ENST00000287840
Genbank transcript ID NM_013964
UniProt peptide Q02297
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.630G>A
g.956457G>A
AA changes R38Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
known variant Reference ID: rs3924999
databasehomozygous (A/A)heterozygousallele carriers
1000G5318671398
ExAC104161193522351

known disease mutation at this position, please check HGMD for details (HGMD ID CM054795)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8950.982
2.2861
(flanking)0.7321
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased956460wt: 0.61 / mu: 0.77wt: TTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCCAGG
mu: TTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCCAGG		 gatt|GAAA
Acc marginally increased956457wt: 0.9581 / mu: 0.9697 (marginal change - not scored)wt: TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
mu: TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC		 cccg|ATTG
Acc marginally increased956452wt: 0.8266 / mu: 0.8304 (marginal change - not scored)wt: TTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAA
mu: TTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAA		 gcct|CCCC
Acc marginally increased956448wt: 0.9609 / mu: 0.9706 (marginal change - not scored)wt: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGA
mu: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGA		 cctt|GCCT
Donor increased956459wt: 0.56 / mu: 0.86wt: CCCGATTGAAAGAGA
mu: CCCAATTGAAAGAGA		 CGAT|tgaa
Donor increased956458wt: 0.72 / mu: 0.87wt: CCCCGATTGAAAGAG
mu: CCCCAATTGAAAGAG		 CCGA|ttga
Donor gained9564530.43mu: TGCCTCCCCAATTGA CCTC|ccca
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38AAGSQSPALPPRLKEMKSQESAAG
mutated  all conserved    38AAGSQSPALPPQLKEMKSQESAA
Ptroglodytes  all identical  ENSPTRG00000020146  38AAGSQSPALPPRLKEMKSQESAA
Mmulatta  all identical  ENSMMUG00000000208  38AAGSHSPALPPRLKEMKSQESAA
Fcatus  all identical  ENSFCAG00000014970  4LPPRLKEMRSQESVA
Mmusculus  no alignment  ENSMUSG00000062991  n/a
Ggallus  no alignment  ENSGALG00000015422  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000068458  162PKLKNLRSVTVED
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000017504  n/a
protein features
start (aa)end (aa)featuredetails 
20242TOPO_DOMExtracellular (Potential).lost
37128DOMAINIg-like C2-type.lost
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
9494CONFLICTK -> A (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
107107CONFLICTS -> P (in Ref. 9; ABQ53539).might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
126126CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
164164CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
165177COMPBIASSer/Thr-rich.might get lost (downstream of altered splice site)
178181STRANDmight get lost (downstream of altered splice site)
178222DOMAINEGF-like.might get lost (downstream of altered splice site)
182182DISULFIDmight get lost (downstream of altered splice site)
184187HELIXmight get lost (downstream of altered splice site)
190190DISULFIDmight get lost (downstream of altered splice site)
190193STRANDmight get lost (downstream of altered splice site)
195205STRANDmight get lost (downstream of altered splice site)
196196DISULFIDmight get lost (downstream of altered splice site)
208211STRANDmight get lost (downstream of altered splice site)
210210DISULFIDmight get lost (downstream of altered splice site)
212212DISULFIDmight get lost (downstream of altered splice site)
216218STRANDmight get lost (downstream of altered splice site)
221221DISULFIDmight get lost (downstream of altered splice site)
233235STRANDmight get lost (downstream of altered splice site)
243265TRANSMEMHelical; Note=Internal signal sequence; (Potential).might get lost (downstream of altered splice site)
261261CONFLICTV -> L (in Ref. 9; ABQ53540).might get lost (downstream of altered splice site)
266640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
414414CONFLICTS -> F (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
535535CONFLICTQ -> R (in Ref. 2; AAA19951).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1923 / 1923
position (AA) of stopcodon in wt / mu AA sequence 641 / 641
position of stopcodon in wt / mu cDNA 2440 / 2440
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 518 / 518
chromosome 8
strand 1
last intron/exon boundary 1786
theoretical NMD boundary in CDS 1218
length of CDS 1923
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 630
gDNA position
(for ins/del: last normal base / first normal base)		 956457
chromosomal position
(for ins/del: last normal base / first normal base)		 32453358
original gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
original cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
wildtype AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPRLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCQPGFTGAR CTENVPMKVQ NQEKAEELYQ
KRVLTITGIC IALLVVGIMC VVAYCKTKKQ RKKLHDRLRQ SLRSERNNMM NIANGPHHPN
PPPENVQLVN QYVSKNVISS EHIVEREAET SFSTSHYTST AHHSTTVTQT PSHSWSNGHT
ESILSESHSV IVMSSVENSR HSSPTGGPRG RLNGTGGPRE CNSFLRHARE TPDSYRDSPH
SERYVSAMTT PARMSPVDFH TPSSPKSPPS EMSPPVSSMT VSMPSMAVSP FMEEERPLLL
VTPPRLREKK FDHHPQQFSS FHHNPAHDSN SLPASPLRIV EDEEYETTQE YEPAQEPVKK
LANSRRAKRT KPNGHIANRL EVDSNTSSQS SNSESETEDE RVGEDTPFLG IQNPLAASLE
ATPAFRLADS RTNPAGRFST QEEIQARLSS VIANQDPIAV *
mutated AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPQLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCQPGFTGAR CTENVPMKVQ NQEKAEELYQ
KRVLTITGIC IALLVVGIMC VVAYCKTKKQ RKKLHDRLRQ SLRSERNNMM NIANGPHHPN
PPPENVQLVN QYVSKNVISS EHIVEREAET SFSTSHYTST AHHSTTVTQT PSHSWSNGHT
ESILSESHSV IVMSSVENSR HSSPTGGPRG RLNGTGGPRE CNSFLRHARE TPDSYRDSPH
SERYVSAMTT PARMSPVDFH TPSSPKSPPS EMSPPVSSMT VSMPSMAVSP FMEEERPLLL
VTPPRLREKK FDHHPQQFSS FHHNPAHDSN SLPASPLRIV EDEEYETTQE YEPAQEPVKK
LANSRRAKRT KPNGHIANRL EVDSNTSSQS SNSESETEDE RVGEDTPFLG IQNPLAASLE
ATPAFRLADS RTNPAGRFST QEEIQARLSS VIANQDPIAV *
speed 0.94 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: 0.860189581135203 (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 CM054795)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:32453358G>AN/A show variant in all transcripts   IGV
HGNC symbol NRG1
Ensembl transcript ID ENST00000287845
Genbank transcript ID N/A
UniProt peptide Q02297
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.630G>A
g.956457G>A
AA changes R38Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
known variant Reference ID: rs3924999
databasehomozygous (A/A)heterozygousallele carriers
1000G5318671398
ExAC104161193522351

known disease mutation at this position, please check HGMD for details (HGMD ID CM054795)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8950.982
2.2861
(flanking)0.7321
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased956460wt: 0.61 / mu: 0.77wt: TTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCCAGG
mu: TTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCCAGG		 gatt|GAAA
Acc marginally increased956457wt: 0.9581 / mu: 0.9697 (marginal change - not scored)wt: TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
mu: TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC		 cccg|ATTG
Acc marginally increased956452wt: 0.8266 / mu: 0.8304 (marginal change - not scored)wt: TTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAA
mu: TTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAA		 gcct|CCCC
Acc marginally increased956448wt: 0.9609 / mu: 0.9706 (marginal change - not scored)wt: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGA
mu: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGA		 cctt|GCCT
Donor increased956459wt: 0.56 / mu: 0.86wt: CCCGATTGAAAGAGA
mu: CCCAATTGAAAGAGA		 CGAT|tgaa
Donor increased956458wt: 0.72 / mu: 0.87wt: CCCCGATTGAAAGAG
mu: CCCCAATTGAAAGAG		 CCGA|ttga
Donor gained9564530.43mu: TGCCTCCCCAATTGA CCTC|ccca
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38AAGSQSPALPPRLKEMKSQESAAG
mutated  all conserved    38AAGSQSPALPPQLKEMKSQESAA
Ptroglodytes  all identical  ENSPTRG00000020146  38AAGSQSPALPPRLKEMKSQESAA
Mmulatta  all identical  ENSMMUG00000000208  38AAGSHSPALPPRLKEMKSQESAA
Fcatus  all identical  ENSFCAG00000014970  4LPPRLKEMRSQESVA
Mmusculus  no alignment  ENSMUSG00000062991  n/a
Ggallus  no alignment  ENSGALG00000015422  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000068458  162PKLKNLRSVTVED
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000017504  n/a
protein features
start (aa)end (aa)featuredetails 
20242TOPO_DOMExtracellular (Potential).lost
37128DOMAINIg-like C2-type.lost
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
9494CONFLICTK -> A (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
107107CONFLICTS -> P (in Ref. 9; ABQ53539).might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
126126CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
164164CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
165177COMPBIASSer/Thr-rich.might get lost (downstream of altered splice site)
178181STRANDmight get lost (downstream of altered splice site)
178222DOMAINEGF-like.might get lost (downstream of altered splice site)
182182DISULFIDmight get lost (downstream of altered splice site)
184187HELIXmight get lost (downstream of altered splice site)
190190DISULFIDmight get lost (downstream of altered splice site)
190193STRANDmight get lost (downstream of altered splice site)
195205STRANDmight get lost (downstream of altered splice site)
196196DISULFIDmight get lost (downstream of altered splice site)
208211STRANDmight get lost (downstream of altered splice site)
210210DISULFIDmight get lost (downstream of altered splice site)
212212DISULFIDmight get lost (downstream of altered splice site)
216218STRANDmight get lost (downstream of altered splice site)
221221DISULFIDmight get lost (downstream of altered splice site)
233235STRANDmight get lost (downstream of altered splice site)
243265TRANSMEMHelical; Note=Internal signal sequence; (Potential).might get lost (downstream of altered splice site)
261261CONFLICTV -> L (in Ref. 9; ABQ53540).might get lost (downstream of altered splice site)
266640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
414414CONFLICTS -> F (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
535535CONFLICTQ -> R (in Ref. 2; AAA19951).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1836 / 1836
position (AA) of stopcodon in wt / mu AA sequence 612 / 612
position of stopcodon in wt / mu cDNA 2353 / 2353
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 518 / 518
chromosome 8
strand 1
last intron/exon boundary 1699
theoretical NMD boundary in CDS 1131
length of CDS 1836
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 630
gDNA position
(for ins/del: last normal base / first normal base)		 956457
chromosomal position
(for ins/del: last normal base / first normal base)		 32453358
original gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
original cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
wildtype AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPRLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNATSTSTT GTSHLVKCAE KEKTFCVNGG ECFMVKDLSN PSRYLCKCPN
EFTGDRCQNY VMASFYKHLG IEFMEAEELY QKRVLTITGI CIALLVVGIM CVVAYCKTKK
QRKKLHDRLR QSLRSERNNM MNIANGPHHP NPPPENVQLV NQYVSKNVIS SEHIVEREAE
TSFSTSHYTS TAHHSTTVTQ TPSHSWSNGH TESILSESHS VIVMSSVENS RHSSPTGGPR
GRLNGTGGPR ECNSFLRHAR ETPDSYRDSP HSERYVSAMT TPARMSPVDF HTPSSPKSPP
SEMSPPVSSM TVSMPSMAVS PFMEEERPLL LVTPPRLREK KFDHHPQQFS SFHHNPAHDS
NSLPASPLRI VEDEEYETTQ EYEPAQEPVK KLANSRRAKR TKPNGHIANR LEVDSNTSSQ
SSNSESETED ERVGEDTPFL GIQNPLAASL EATPAFRLAD SRTNPAGRFS TQEEIQARLS
SVIANQDPIA V*
mutated AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPQLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNATSTSTT GTSHLVKCAE KEKTFCVNGG ECFMVKDLSN PSRYLCKCPN
EFTGDRCQNY VMASFYKHLG IEFMEAEELY QKRVLTITGI CIALLVVGIM CVVAYCKTKK
QRKKLHDRLR QSLRSERNNM MNIANGPHHP NPPPENVQLV NQYVSKNVIS SEHIVEREAE
TSFSTSHYTS TAHHSTTVTQ TPSHSWSNGH TESILSESHS VIVMSSVENS RHSSPTGGPR
GRLNGTGGPR ECNSFLRHAR ETPDSYRDSP HSERYVSAMT TPARMSPVDF HTPSSPKSPP
SEMSPPVSSM TVSMPSMAVS PFMEEERPLL LVTPPRLREK KFDHHPQQFS SFHHNPAHDS
NSLPASPLRI VEDEEYETTQ EYEPAQEPVK KLANSRRAKR TKPNGHIANR LEVDSNTSSQ
SSNSESETED ERVGEDTPFL GIQNPLAASL EATPAFRLAD SRTNPAGRFS TQEEIQARLS
SVIANQDPIA V*
speed 0.72 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: 0.860189581135203 (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 CM054795)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:32453358G>AN/A show variant in all transcripts   IGV
HGNC symbol NRG1
Ensembl transcript ID ENST00000341377
Genbank transcript ID N/A
UniProt peptide Q02297
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.630G>A
g.956457G>A
AA changes R38Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
known variant Reference ID: rs3924999
databasehomozygous (A/A)heterozygousallele carriers
1000G5318671398
ExAC104161193522351

known disease mutation at this position, please check HGMD for details (HGMD ID CM054795)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8950.982
2.2861
(flanking)0.7321
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased956460wt: 0.61 / mu: 0.77wt: TTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCCAGG
mu: TTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCCAGG		 gatt|GAAA
Acc marginally increased956457wt: 0.9581 / mu: 0.9697 (marginal change - not scored)wt: TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
mu: TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC		 cccg|ATTG
Acc marginally increased956452wt: 0.8266 / mu: 0.8304 (marginal change - not scored)wt: TTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAA
mu: TTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAA		 gcct|CCCC
Acc marginally increased956448wt: 0.9609 / mu: 0.9706 (marginal change - not scored)wt: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGA
mu: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGA		 cctt|GCCT
Donor increased956459wt: 0.56 / mu: 0.86wt: CCCGATTGAAAGAGA
mu: CCCAATTGAAAGAGA		 CGAT|tgaa
Donor increased956458wt: 0.72 / mu: 0.87wt: CCCCGATTGAAAGAG
mu: CCCCAATTGAAAGAG		 CCGA|ttga
Donor gained9564530.43mu: TGCCTCCCCAATTGA CCTC|ccca
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38AAGSQSPALPPRLKEMKSQESAAG
mutated  all conserved    38AAGSQSPALPPQLKEMKSQESAA
Ptroglodytes  all identical  ENSPTRG00000020146  38AAGSQSPALPPRLKEMKSQESAA
Mmulatta  all identical  ENSMMUG00000000208  38AAGSHSPALPPRLKEMKSQESAA
Fcatus  all identical  ENSFCAG00000014970  4LPPRLKEMRSQESVA
Mmusculus  no alignment  ENSMUSG00000062991  n/a
Ggallus  no alignment  ENSGALG00000015422  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000068458  162PKLKNLRSVTVED
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000017504  n/a
protein features
start (aa)end (aa)featuredetails 
20242TOPO_DOMExtracellular (Potential).lost
37128DOMAINIg-like C2-type.lost
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
9494CONFLICTK -> A (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
107107CONFLICTS -> P (in Ref. 9; ABQ53539).might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
126126CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
164164CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
165177COMPBIASSer/Thr-rich.might get lost (downstream of altered splice site)
178181STRANDmight get lost (downstream of altered splice site)
178222DOMAINEGF-like.might get lost (downstream of altered splice site)
182182DISULFIDmight get lost (downstream of altered splice site)
184187HELIXmight get lost (downstream of altered splice site)
190190DISULFIDmight get lost (downstream of altered splice site)
190193STRANDmight get lost (downstream of altered splice site)
195205STRANDmight get lost (downstream of altered splice site)
196196DISULFIDmight get lost (downstream of altered splice site)
208211STRANDmight get lost (downstream of altered splice site)
210210DISULFIDmight get lost (downstream of altered splice site)
212212DISULFIDmight get lost (downstream of altered splice site)
216218STRANDmight get lost (downstream of altered splice site)
221221DISULFIDmight get lost (downstream of altered splice site)
233235STRANDmight get lost (downstream of altered splice site)
243265TRANSMEMHelical; Note=Internal signal sequence; (Potential).might get lost (downstream of altered splice site)
261261CONFLICTV -> L (in Ref. 9; ABQ53540).might get lost (downstream of altered splice site)
266640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
414414CONFLICTS -> F (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
535535CONFLICTQ -> R (in Ref. 2; AAA19951).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 744 / 744
position (AA) of stopcodon in wt / mu AA sequence 248 / 248
position of stopcodon in wt / mu cDNA 1261 / 1261
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 518 / 518
chromosome 8
strand 1
last intron/exon boundary 1845
theoretical NMD boundary in CDS 1277
length of CDS 744
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 630
gDNA position
(for ins/del: last normal base / first normal base)		 956457
chromosomal position
(for ins/del: last normal base / first normal base)		 32453358
original gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
original cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
wildtype AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPRLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCQPGFTGAR CTENVPMKVQ NQESAQMSLL
VIAAKTT*
mutated AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPQLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCQPGFTGAR CTENVPMKVQ NQESAQMSLL
VIAAKTT*
speed 0.35 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: 0.85299986174086 (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 CM054795)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:32453358G>AN/A show variant in all transcripts   IGV
HGNC symbol NRG1
Ensembl transcript ID ENST00000520407
Genbank transcript ID NM_013962
UniProt peptide Q02297
alteration type single base exchange
alteration region CDS
DNA changes c.758G>A
cDNA.988G>A
g.956457G>A
AA changes R253Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 253
frameshift no
known variant Reference ID: rs3924999
databasehomozygous (A/A)heterozygousallele carriers
1000G5318671398
ExAC104161193522351

known disease mutation at this position, please check HGMD for details (HGMD ID CM054795)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8950.982
2.2861
(flanking)0.7321
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased956460wt: 0.61 / mu: 0.77wt: TTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCCAGG
mu: TTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCCAGG		 gatt|GAAA
Acc marginally increased956457wt: 0.9581 / mu: 0.9697 (marginal change - not scored)wt: TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
mu: TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC		 cccg|ATTG
Acc marginally increased956452wt: 0.8266 / mu: 0.8304 (marginal change - not scored)wt: TTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAA
mu: TTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAA		 gcct|CCCC
Acc marginally increased956448wt: 0.9609 / mu: 0.9706 (marginal change - not scored)wt: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGA
mu: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGA		 cctt|GCCT
Donor increased956459wt: 0.56 / mu: 0.86wt: CCCGATTGAAAGAGA
mu: CCCAATTGAAAGAGA		 CGAT|tgaa
Donor increased956458wt: 0.72 / mu: 0.87wt: CCCCGATTGAAAGAG
mu: CCCCAATTGAAAGAG		 CCGA|ttga
Donor gained9564530.43mu: TGCCTCCCCAATTGA CCTC|ccca
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      253RVLCKRCALPPRLKEMKSQESAAG
mutated  all conserved    253RVLCKRCALPPQLKEMKSQESAA
Ptroglodytes  all identical  ENSPTRG00000020146  38AAGSQSPALPPRLKEMKSQESAA
Mmulatta  all identical  ENSMMUG00000000208  38ALPPRLKEMKSQESAA
Fcatus  all identical  ENSFCAG00000014970  4LPPRLKEMRSQESVA
Mmusculus  no alignment  ENSMUSG00000062991  n/a
Ggallus  no alignment  ENSGALG00000015422  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000068458  168QVLCQDCA-EPKLKNLRSVTVED
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000017504  n/a
protein features
start (aa)end (aa)featuredetails 
243265TRANSMEMHelical; Note=Internal signal sequence; (Potential).lost
261261CONFLICTV -> L (in Ref. 9; ABQ53540).might get lost (downstream of altered splice site)
266640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
414414CONFLICTS -> F (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
535535CONFLICTQ -> R (in Ref. 2; AAA19951).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1269 / 1269
position (AA) of stopcodon in wt / mu AA sequence 423 / 423
position of stopcodon in wt / mu cDNA 1499 / 1499
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 231 / 231
chromosome 8
strand 1
last intron/exon boundary 1406
theoretical NMD boundary in CDS 1125
length of CDS 1269
coding sequence (CDS) position 758
cDNA position
(for ins/del: last normal base / first normal base)		 988
gDNA position
(for ins/del: last normal base / first normal base)		 956457
chromosomal position
(for ins/del: last normal base / first normal base)		 32453358
original gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
original cDNA sequence snippet GCGGTGCGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered cDNA sequence snippet GCGGTGCGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
wildtype AA sequence MRWRRAPRRS GRPGPRAQRP GSAARSSPPL PLLPLLLLLG TAALAPGAAA GNEAAPAGAS
VCYSSPPSVG SVQELAQRAA VVIEGKVHPQ RRQQGALDRK AAAAAGEAGA WGGDREPPAA
GPRALGPPAE EPLLAANGTV PSWPTAPVPS AGEPGEEAPY LVKVHQVWAV KAGGLKKDSL
LTVRLGTWGH PAFPSCGRLK EDSRYIFFME PDANSTSRAP AAFRASFPPL ETGRNLKKEV
SRVLCKRCAL PPRLKEMKSQ ESAAGSKLVL RCETSSEYSS LRFKWFKNGN ELNRKNKPQN
IKIQKKPGKS ELRINKASLA DSGEYMCKVI SKLGNDSASA NITIVESNAT STSTTGTSHL
VKCAEKEKTF CVNGGECFMV KDLSNPSRYL CKCPNEFTGD RCQNYVMASF YSTSTPFLSL
PE*
mutated AA sequence MRWRRAPRRS GRPGPRAQRP GSAARSSPPL PLLPLLLLLG TAALAPGAAA GNEAAPAGAS
VCYSSPPSVG SVQELAQRAA VVIEGKVHPQ RRQQGALDRK AAAAAGEAGA WGGDREPPAA
GPRALGPPAE EPLLAANGTV PSWPTAPVPS AGEPGEEAPY LVKVHQVWAV KAGGLKKDSL
LTVRLGTWGH PAFPSCGRLK EDSRYIFFME PDANSTSRAP AAFRASFPPL ETGRNLKKEV
SRVLCKRCAL PPQLKEMKSQ ESAAGSKLVL RCETSSEYSS LRFKWFKNGN ELNRKNKPQN
IKIQKKPGKS ELRINKASLA DSGEYMCKVI SKLGNDSASA NITIVESNAT STSTTGTSHL
VKCAEKEKTF CVNGGECFMV KDLSNPSRYL CKCPNEFTGD RCQNYVMASF YSTSTPFLSL
PE*
speed 0.97 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
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Problems