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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000493429
Querying Taster for transcript #2: ENST00000467291
Querying Taster for transcript #3: ENST00000360937
Querying Taster for transcript #4: ENST00000416793
Querying Taster for transcript #5: ENST00000483043
MT speed 0 s - this script 5.258221 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
AOC1polymorphism_automatic6.76014799694258e-13simple_aaeaffectedT16Msingle base exchangers10156191show file
AOC1polymorphism_automatic6.76014799694258e-13simple_aaeaffectedT16Msingle base exchangers10156191show file
AOC1polymorphism_automatic6.76014799694258e-13simple_aaeaffectedT16Msingle base exchangers10156191show file
AOC1polymorphism_automatic6.76014799694258e-13simple_aaeaffectedT16Msingle base exchangers10156191show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999324 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:150553605C>TN/A show variant in all transcripts   IGV
HGNC symbol AOC1
Ensembl transcript ID ENST00000493429
Genbank transcript ID N/A
UniProt peptide P19801
alteration type single base exchange
alteration region CDS
DNA changes c.47C>T
cDNA.631C>T
g.31891C>T
AA changes T16M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 16
frameshift no
known variant Reference ID: rs10156191
databasehomozygous (T/T)heterozygousallele carriers
1000G3368951231
ExAC50062238727393
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4580.013
-0.0380
(flanking)1.4070.005
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased31887wt: 0.24 / mu: 0.27wt: TGGCTGCCATCCTGATGCTGCAGACGGCCATGGCGGAGCCC
mu: TGGCTGCCATCCTGATGCTGCAGATGGCCATGGCGGAGCCC		 ctgc|AGAC
distance from splice site 63
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      16GWAVAAILMLQTAMAEPSPGTLPR
mutated  not conserved    16GWAVAAILMLQMAMAEPSPGTLP
Ptroglodytes  not conserved  ENSPTRG00000019866  16GWAVAAILMLQMAMAEPSPGTLP
Mmulatta  not conserved  ENSMMUG00000020435  15GWAVAAILMLQMAMAEPSLGTLH
Fcatus  all identical  ENSFCAG00000013798  16GWAIATILALQTVAATKCTPRTLH
Mmusculus  all identical  ENSMUSG00000029811  22GWA-AVILLLQTADTASAVTTPH
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000017882  20GLAVAVLVFLASCSASKWRNWAR
Drerio  not conserved  ENSDARG00000061355  10MLLLATLASSSASSRT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
119SIGNALlost
2828CONFLICTR -> A (in Ref. 7; AA sequence).might get lost (downstream of altered splice site)
2933HELIXmight get lost (downstream of altered splice site)
3849HELIXmight get lost (downstream of altered splice site)
5254HELIXmight get lost (downstream of altered splice site)
6475STRANDmight get lost (downstream of altered splice site)
7988HELIXmight get lost (downstream of altered splice site)
96103STRANDmight get lost (downstream of altered splice site)
105108STRANDmight get lost (downstream of altered splice site)
110110CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
110117STRANDmight get lost (downstream of altered splice site)
119121STRANDmight get lost (downstream of altered splice site)
124129STRANDmight get lost (downstream of altered splice site)
137140HELIXmight get lost (downstream of altered splice site)
145158HELIXmight get lost (downstream of altered splice site)
160162HELIXmight get lost (downstream of altered splice site)
163170HELIXmight get lost (downstream of altered splice site)
168168CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
173176STRANDmight get lost (downstream of altered splice site)
177177DISULFIDmight get lost (downstream of altered splice site)
178186STRANDmight get lost (downstream of altered splice site)
181181DISULFIDmight get lost (downstream of altered splice site)
191193STRANDmight get lost (downstream of altered splice site)
198205STRANDmight get lost (downstream of altered splice site)
210212HELIXmight get lost (downstream of altered splice site)
214222STRANDmight get lost (downstream of altered splice site)
225227STRANDmight get lost (downstream of altered splice site)
228230HELIXmight get lost (downstream of altered splice site)
232238STRANDmight get lost (downstream of altered splice site)
246254HELIXmight get lost (downstream of altered splice site)
280280CONFLICTP -> A (in Ref. 1; AAA58358).might get lost (downstream of altered splice site)
290290CONFLICTD -> T (in Ref. 1; AAA58358).might get lost (downstream of altered splice site)
301303STRANDmight get lost (downstream of altered splice site)
309313STRANDmight get lost (downstream of altered splice site)
316320STRANDmight get lost (downstream of altered splice site)
322329STRANDmight get lost (downstream of altered splice site)
330332TURNmight get lost (downstream of altered splice site)
333341STRANDmight get lost (downstream of altered splice site)
344359STRANDmight get lost (downstream of altered splice site)
364368HELIXmight get lost (downstream of altered splice site)
370372STRANDmight get lost (downstream of altered splice site)
373373ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
373376HELIXmight get lost (downstream of altered splice site)
378380HELIXmight get lost (downstream of altered splice site)
387389TURNmight get lost (downstream of altered splice site)
391391DISULFIDmight get lost (downstream of altered splice site)
395405STRANDmight get lost (downstream of altered splice site)
410422STRANDmight get lost (downstream of altered splice site)
417417DISULFIDmight get lost (downstream of altered splice site)
427433STRANDmight get lost (downstream of altered splice site)
435445STRANDmight get lost (downstream of altered splice site)
448456STRANDmight get lost (downstream of altered splice site)
458469STRANDmight get lost (downstream of altered splice site)
461461ACT_SITESchiff-base intermediate with substrate; via topaquinone.might get lost (downstream of altered splice site)
461461MOD_RES2',4',5'-topaquinone.might get lost (downstream of altered splice site)
475483STRANDmight get lost (downstream of altered splice site)
487489STRANDmight get lost (downstream of altered splice site)
492496HELIXmight get lost (downstream of altered splice site)
497502STRANDmight get lost (downstream of altered splice site)
505508STRANDmight get lost (downstream of altered splice site)
510510METALCopper.might get lost (downstream of altered splice site)
510520STRANDmight get lost (downstream of altered splice site)
512512METALCopper.might get lost (downstream of altered splice site)
519519METALCalcium 1.might get lost (downstream of altered splice site)
520520METALCalcium 1; via carbonyl oxygen.might get lost (downstream of altered splice site)
521521METALCalcium 1.might get lost (downstream of altered splice site)
524540STRANDmight get lost (downstream of altered splice site)
538538CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
547559STRANDmight get lost (downstream of altered splice site)
562562METALCalcium 2.might get lost (downstream of altered splice site)
562565HELIXmight get lost (downstream of altered splice site)
568575REGIONHeparin-binding (By similarity).might get lost (downstream of altered splice site)
569571STRANDmight get lost (downstream of altered splice site)
572572CONFLICTK -> R (in Ref. 1; AAA58358).might get lost (downstream of altered splice site)
575584STRANDmight get lost (downstream of altered splice site)
590598STRANDmight get lost (downstream of altered splice site)
592592CONFLICTT -> S (in Ref. 1; AAA58358, 2; CAA55046, 3; AAC50270/AAB60381 and 6; AAH14093).might get lost (downstream of altered splice site)
610619HELIXmight get lost (downstream of altered splice site)
621626STRANDmight get lost (downstream of altered splice site)
629631HELIXmight get lost (downstream of altered splice site)
637641TURNmight get lost (downstream of altered splice site)
643645STRANDmight get lost (downstream of altered splice site)
652655HELIXmight get lost (downstream of altered splice site)
653653METALCalcium 2; via carbonyl oxygen.might get lost (downstream of altered splice site)
656656METALCalcium 2.might get lost (downstream of altered splice site)
658658METALCalcium 2.might get lost (downstream of altered splice site)
661675STRANDmight get lost (downstream of altered splice site)
664664METALCalcium 1.might get lost (downstream of altered splice site)
665665METALCalcium 1; via carbonyl oxygen.might get lost (downstream of altered splice site)
675675METALCopper.might get lost (downstream of altered splice site)
679681HELIXmight get lost (downstream of altered splice site)
691704STRANDmight get lost (downstream of altered splice site)
706709HELIXmight get lost (downstream of altered splice site)
714717STRANDmight get lost (downstream of altered splice site)
720723STRANDmight get lost (downstream of altered splice site)
725727STRANDmight get lost (downstream of altered splice site)
736736DISULFIDInterchain.might get lost (downstream of altered splice site)
736736DISULFIDInterchain.might get lost (downstream of altered splice site)
745745CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2256 / 2256
position (AA) of stopcodon in wt / mu AA sequence 752 / 752
position of stopcodon in wt / mu cDNA 2840 / 2840
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 585 / 585
chromosome 7
strand 1
last intron/exon boundary 2574
theoretical NMD boundary in CDS 1939
length of CDS 2256
coding sequence (CDS) position 47
cDNA position
(for ins/del: last normal base / first normal base)		 631
gDNA position
(for ins/del: last normal base / first normal base)		 31891
chromosomal position
(for ins/del: last normal base / first normal base)		 150553605
original gDNA sequence snippet TGCCATCCTGATGCTGCAGACGGCCATGGCGGAGCCCTCCC
altered gDNA sequence snippet TGCCATCCTGATGCTGCAGATGGCCATGGCGGAGCCCTCCC
original cDNA sequence snippet TGCCATCCTGATGCTGCAGACGGCCATGGCGGAGCCCTCCC
altered cDNA sequence snippet TGCCATCCTGATGCTGCAGATGGCCATGGCGGAGCCCTCCC
wildtype AA sequence MPALGWAVAA ILMLQTAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKMH
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
ADQVLPPGWQ EEQAITWARY PLAVTKYRES ELCSSSIYHQ NDPWHPPVVF EQFLHNNENI
ENEDLVAWVT VGFLHIPHSE DIPNTATPGN SVGFLLRPFN FFPEDPSLAS RDTVIVWPRD
NGPNYVQRWI PEDRDCSMPP PFSYNGTYRP V*
mutated AA sequence MPALGWAVAA ILMLQMAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKMH
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
ADQVLPPGWQ EEQAITWARY PLAVTKYRES ELCSSSIYHQ NDPWHPPVVF EQFLHNNENI
ENEDLVAWVT VGFLHIPHSE DIPNTATPGN SVGFLLRPFN FFPEDPSLAS RDTVIVWPRD
NGPNYVQRWI PEDRDCSMPP PFSYNGTYRP V*
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: 0.999999999999324 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:150553605C>TN/A show variant in all transcripts   IGV
HGNC symbol AOC1
Ensembl transcript ID ENST00000467291
Genbank transcript ID N/A
UniProt peptide P19801
alteration type single base exchange
alteration region CDS
DNA changes c.47C>T
cDNA.353C>T
g.31891C>T
AA changes T16M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 16
frameshift no
known variant Reference ID: rs10156191
databasehomozygous (T/T)heterozygousallele carriers
1000G3368951231
ExAC50062238727393
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4580.013
-0.0380
(flanking)1.4070.005
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased31887wt: 0.24 / mu: 0.27wt: TGGCTGCCATCCTGATGCTGCAGACGGCCATGGCGGAGCCC
mu: TGGCTGCCATCCTGATGCTGCAGATGGCCATGGCGGAGCCC		 ctgc|AGAC
distance from splice site 63
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      16GWAVAAILMLQTAMAEPSPGTLPR
mutated  not conserved    16GWAVAAILMLQMAMAEPSPGTLP
Ptroglodytes  not conserved  ENSPTRG00000019866  16GWAVAAILMLQMAMAEPSPGTLP
Mmulatta  not conserved  ENSMMUG00000020435  15GWAVAAILMLQMAMAEPSLGTLH
Fcatus  all identical  ENSFCAG00000013798  16GWAIATILALQTVAATKCTPRTLH
Mmusculus  all identical  ENSMUSG00000029811  22GWA-AVILLLQTADTASAVTTPH
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000017882  20GLAVAVLVFLASCSASKWRNWAR
Drerio  not conserved  ENSDARG00000061355  10MLLLATLASSSASSRT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
119SIGNALlost
2828CONFLICTR -> A (in Ref. 7; AA sequence).might get lost (downstream of altered splice site)
2933HELIXmight get lost (downstream of altered splice site)
3849HELIXmight get lost (downstream of altered splice site)
5254HELIXmight get lost (downstream of altered splice site)
6475STRANDmight get lost (downstream of altered splice site)
7988HELIXmight get lost (downstream of altered splice site)
96103STRANDmight get lost (downstream of altered splice site)
105108STRANDmight get lost (downstream of altered splice site)
110110CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
110117STRANDmight get lost (downstream of altered splice site)
119121STRANDmight get lost (downstream of altered splice site)
124129STRANDmight get lost (downstream of altered splice site)
137140HELIXmight get lost (downstream of altered splice site)
145158HELIXmight get lost (downstream of altered splice site)
160162HELIXmight get lost (downstream of altered splice site)
163170HELIXmight get lost (downstream of altered splice site)
168168CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
173176STRANDmight get lost (downstream of altered splice site)
177177DISULFIDmight get lost (downstream of altered splice site)
178186STRANDmight get lost (downstream of altered splice site)
181181DISULFIDmight get lost (downstream of altered splice site)
191193STRANDmight get lost (downstream of altered splice site)
198205STRANDmight get lost (downstream of altered splice site)
210212HELIXmight get lost (downstream of altered splice site)
214222STRANDmight get lost (downstream of altered splice site)
225227STRANDmight get lost (downstream of altered splice site)
228230HELIXmight get lost (downstream of altered splice site)
232238STRANDmight get lost (downstream of altered splice site)
246254HELIXmight get lost (downstream of altered splice site)
280280CONFLICTP -> A (in Ref. 1; AAA58358).might get lost (downstream of altered splice site)
290290CONFLICTD -> T (in Ref. 1; AAA58358).might get lost (downstream of altered splice site)
301303STRANDmight get lost (downstream of altered splice site)
309313STRANDmight get lost (downstream of altered splice site)
316320STRANDmight get lost (downstream of altered splice site)
322329STRANDmight get lost (downstream of altered splice site)
330332TURNmight get lost (downstream of altered splice site)
333341STRANDmight get lost (downstream of altered splice site)
344359STRANDmight get lost (downstream of altered splice site)
364368HELIXmight get lost (downstream of altered splice site)
370372STRANDmight get lost (downstream of altered splice site)
373373ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
373376HELIXmight get lost (downstream of altered splice site)
378380HELIXmight get lost (downstream of altered splice site)
387389TURNmight get lost (downstream of altered splice site)
391391DISULFIDmight get lost (downstream of altered splice site)
395405STRANDmight get lost (downstream of altered splice site)
410422STRANDmight get lost (downstream of altered splice site)
417417DISULFIDmight get lost (downstream of altered splice site)
427433STRANDmight get lost (downstream of altered splice site)
435445STRANDmight get lost (downstream of altered splice site)
448456STRANDmight get lost (downstream of altered splice site)
458469STRANDmight get lost (downstream of altered splice site)
461461ACT_SITESchiff-base intermediate with substrate; via topaquinone.might get lost (downstream of altered splice site)
461461MOD_RES2',4',5'-topaquinone.might get lost (downstream of altered splice site)
475483STRANDmight get lost (downstream of altered splice site)
487489STRANDmight get lost (downstream of altered splice site)
492496HELIXmight get lost (downstream of altered splice site)
497502STRANDmight get lost (downstream of altered splice site)
505508STRANDmight get lost (downstream of altered splice site)
510510METALCopper.might get lost (downstream of altered splice site)
510520STRANDmight get lost (downstream of altered splice site)
512512METALCopper.might get lost (downstream of altered splice site)
519519METALCalcium 1.might get lost (downstream of altered splice site)
520520METALCalcium 1; via carbonyl oxygen.might get lost (downstream of altered splice site)
521521METALCalcium 1.might get lost (downstream of altered splice site)
524540STRANDmight get lost (downstream of altered splice site)
538538CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
547559STRANDmight get lost (downstream of altered splice site)
562562METALCalcium 2.might get lost (downstream of altered splice site)
562565HELIXmight get lost (downstream of altered splice site)
568575REGIONHeparin-binding (By similarity).might get lost (downstream of altered splice site)
569571STRANDmight get lost (downstream of altered splice site)
572572CONFLICTK -> R (in Ref. 1; AAA58358).might get lost (downstream of altered splice site)
575584STRANDmight get lost (downstream of altered splice site)
590598STRANDmight get lost (downstream of altered splice site)
592592CONFLICTT -> S (in Ref. 1; AAA58358, 2; CAA55046, 3; AAC50270/AAB60381 and 6; AAH14093).might get lost (downstream of altered splice site)
610619HELIXmight get lost (downstream of altered splice site)
621626STRANDmight get lost (downstream of altered splice site)
629631HELIXmight get lost (downstream of altered splice site)
637641TURNmight get lost (downstream of altered splice site)
643645STRANDmight get lost (downstream of altered splice site)
652655HELIXmight get lost (downstream of altered splice site)
653653METALCalcium 2; via carbonyl oxygen.might get lost (downstream of altered splice site)
656656METALCalcium 2.might get lost (downstream of altered splice site)
658658METALCalcium 2.might get lost (downstream of altered splice site)
661675STRANDmight get lost (downstream of altered splice site)
664664METALCalcium 1.might get lost (downstream of altered splice site)
665665METALCalcium 1; via carbonyl oxygen.might get lost (downstream of altered splice site)
675675METALCopper.might get lost (downstream of altered splice site)
679681HELIXmight get lost (downstream of altered splice site)
691704STRANDmight get lost (downstream of altered splice site)
706709HELIXmight get lost (downstream of altered splice site)
714717STRANDmight get lost (downstream of altered splice site)
720723STRANDmight get lost (downstream of altered splice site)
725727STRANDmight get lost (downstream of altered splice site)
736736DISULFIDInterchain.might get lost (downstream of altered splice site)
736736DISULFIDInterchain.might get lost (downstream of altered splice site)
745745CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2256 / 2256
position (AA) of stopcodon in wt / mu AA sequence 752 / 752
position of stopcodon in wt / mu cDNA 2562 / 2562
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 307 / 307
chromosome 7
strand 1
last intron/exon boundary 2296
theoretical NMD boundary in CDS 1939
length of CDS 2256
coding sequence (CDS) position 47
cDNA position
(for ins/del: last normal base / first normal base)		 353
gDNA position
(for ins/del: last normal base / first normal base)		 31891
chromosomal position
(for ins/del: last normal base / first normal base)		 150553605
original gDNA sequence snippet TGCCATCCTGATGCTGCAGACGGCCATGGCGGAGCCCTCCC
altered gDNA sequence snippet TGCCATCCTGATGCTGCAGATGGCCATGGCGGAGCCCTCCC
original cDNA sequence snippet TGCCATCCTGATGCTGCAGACGGCCATGGCGGAGCCCTCCC
altered cDNA sequence snippet TGCCATCCTGATGCTGCAGATGGCCATGGCGGAGCCCTCCC
wildtype AA sequence MPALGWAVAA ILMLQTAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKMH
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
ADQVLPPGWQ EEQAITWARY PLAVTKYRES ELCSSSIYHQ NDPWHPPVVF EQFLHNNENI
ENEDLVAWVT VGFLHIPHSE DIPNTATPGN SVGFLLRPFN FFPEDPSLAS RDTVIVWPRD
NGPNYVQRWI PEDRDCSMPP PFSYNGTYRP V*
mutated AA sequence MPALGWAVAA ILMLQMAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKMH
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
ADQVLPPGWQ EEQAITWARY PLAVTKYRES ELCSSSIYHQ NDPWHPPVVF EQFLHNNENI
ENEDLVAWVT VGFLHIPHSE DIPNTATPGN SVGFLLRPFN FFPEDPSLAS RDTVIVWPRD
NGPNYVQRWI PEDRDCSMPP PFSYNGTYRP V*
speed 0.92 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: 0.999999999999324 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:150553605C>TN/A show variant in all transcripts   IGV
HGNC symbol AOC1
Ensembl transcript ID ENST00000360937
Genbank transcript ID NM_001091
UniProt peptide P19801
alteration type single base exchange
alteration region CDS
DNA changes c.47C>T
cDNA.145C>T
g.31891C>T
AA changes T16M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 16
frameshift no
known variant Reference ID: rs10156191
databasehomozygous (T/T)heterozygousallele carriers
1000G3368951231
ExAC50062238727393
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4580.013
-0.0380
(flanking)1.4070.005
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased31887wt: 0.24 / mu: 0.27wt: TGGCTGCCATCCTGATGCTGCAGACGGCCATGGCGGAGCCC
mu: TGGCTGCCATCCTGATGCTGCAGATGGCCATGGCGGAGCCC		 ctgc|AGAC
distance from splice site 63
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      16GWAVAAILMLQTAMAEPSPGTLPR
mutated  not conserved    16GWAVAAILMLQMAMAEPSPGTLP
Ptroglodytes  not conserved  ENSPTRG00000019866  16GWAVAAILMLQMAMAEPSPGTLP
Mmulatta  not conserved  ENSMMUG00000020435  15GWAVAAILMLQMAMAEPSLGTLH
Fcatus  all identical  ENSFCAG00000013798  16GWAIATILALQTVAATKCTPRTLH
Mmusculus  all identical  ENSMUSG00000029811  22GWA-AVILLLQTADTASAVTTPH
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000017882  20GLAVAVLVFLASCSASKWRNWAR
Drerio  not conserved  ENSDARG00000061355  10MLLLATLASSSASSRT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
119SIGNALlost
2828CONFLICTR -> A (in Ref. 7; AA sequence).might get lost (downstream of altered splice site)
2933HELIXmight get lost (downstream of altered splice site)
3849HELIXmight get lost (downstream of altered splice site)
5254HELIXmight get lost (downstream of altered splice site)
6475STRANDmight get lost (downstream of altered splice site)
7988HELIXmight get lost (downstream of altered splice site)
96103STRANDmight get lost (downstream of altered splice site)
105108STRANDmight get lost (downstream of altered splice site)
110110CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
110117STRANDmight get lost (downstream of altered splice site)
119121STRANDmight get lost (downstream of altered splice site)
124129STRANDmight get lost (downstream of altered splice site)
137140HELIXmight get lost (downstream of altered splice site)
145158HELIXmight get lost (downstream of altered splice site)
160162HELIXmight get lost (downstream of altered splice site)
163170HELIXmight get lost (downstream of altered splice site)
168168CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
173176STRANDmight get lost (downstream of altered splice site)
177177DISULFIDmight get lost (downstream of altered splice site)
178186STRANDmight get lost (downstream of altered splice site)
181181DISULFIDmight get lost (downstream of altered splice site)
191193STRANDmight get lost (downstream of altered splice site)
198205STRANDmight get lost (downstream of altered splice site)
210212HELIXmight get lost (downstream of altered splice site)
214222STRANDmight get lost (downstream of altered splice site)
225227STRANDmight get lost (downstream of altered splice site)
228230HELIXmight get lost (downstream of altered splice site)
232238STRANDmight get lost (downstream of altered splice site)
246254HELIXmight get lost (downstream of altered splice site)
280280CONFLICTP -> A (in Ref. 1; AAA58358).might get lost (downstream of altered splice site)
290290CONFLICTD -> T (in Ref. 1; AAA58358).might get lost (downstream of altered splice site)
301303STRANDmight get lost (downstream of altered splice site)
309313STRANDmight get lost (downstream of altered splice site)
316320STRANDmight get lost (downstream of altered splice site)
322329STRANDmight get lost (downstream of altered splice site)
330332TURNmight get lost (downstream of altered splice site)
333341STRANDmight get lost (downstream of altered splice site)
344359STRANDmight get lost (downstream of altered splice site)
364368HELIXmight get lost (downstream of altered splice site)
370372STRANDmight get lost (downstream of altered splice site)
373373ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
373376HELIXmight get lost (downstream of altered splice site)
378380HELIXmight get lost (downstream of altered splice site)
387389TURNmight get lost (downstream of altered splice site)
391391DISULFIDmight get lost (downstream of altered splice site)
395405STRANDmight get lost (downstream of altered splice site)
410422STRANDmight get lost (downstream of altered splice site)
417417DISULFIDmight get lost (downstream of altered splice site)
427433STRANDmight get lost (downstream of altered splice site)
435445STRANDmight get lost (downstream of altered splice site)
448456STRANDmight get lost (downstream of altered splice site)
458469STRANDmight get lost (downstream of altered splice site)
461461ACT_SITESchiff-base intermediate with substrate; via topaquinone.might get lost (downstream of altered splice site)
461461MOD_RES2',4',5'-topaquinone.might get lost (downstream of altered splice site)
475483STRANDmight get lost (downstream of altered splice site)
487489STRANDmight get lost (downstream of altered splice site)
492496HELIXmight get lost (downstream of altered splice site)
497502STRANDmight get lost (downstream of altered splice site)
505508STRANDmight get lost (downstream of altered splice site)
510510METALCopper.might get lost (downstream of altered splice site)
510520STRANDmight get lost (downstream of altered splice site)
512512METALCopper.might get lost (downstream of altered splice site)
519519METALCalcium 1.might get lost (downstream of altered splice site)
520520METALCalcium 1; via carbonyl oxygen.might get lost (downstream of altered splice site)
521521METALCalcium 1.might get lost (downstream of altered splice site)
524540STRANDmight get lost (downstream of altered splice site)
538538CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
547559STRANDmight get lost (downstream of altered splice site)
562562METALCalcium 2.might get lost (downstream of altered splice site)
562565HELIXmight get lost (downstream of altered splice site)
568575REGIONHeparin-binding (By similarity).might get lost (downstream of altered splice site)
569571STRANDmight get lost (downstream of altered splice site)
572572CONFLICTK -> R (in Ref. 1; AAA58358).might get lost (downstream of altered splice site)
575584STRANDmight get lost (downstream of altered splice site)
590598STRANDmight get lost (downstream of altered splice site)
592592CONFLICTT -> S (in Ref. 1; AAA58358, 2; CAA55046, 3; AAC50270/AAB60381 and 6; AAH14093).might get lost (downstream of altered splice site)
610619HELIXmight get lost (downstream of altered splice site)
621626STRANDmight get lost (downstream of altered splice site)
629631HELIXmight get lost (downstream of altered splice site)
637641TURNmight get lost (downstream of altered splice site)
643645STRANDmight get lost (downstream of altered splice site)
652655HELIXmight get lost (downstream of altered splice site)
653653METALCalcium 2; via carbonyl oxygen.might get lost (downstream of altered splice site)
656656METALCalcium 2.might get lost (downstream of altered splice site)
658658METALCalcium 2.might get lost (downstream of altered splice site)
661675STRANDmight get lost (downstream of altered splice site)
664664METALCalcium 1.might get lost (downstream of altered splice site)
665665METALCalcium 1; via carbonyl oxygen.might get lost (downstream of altered splice site)
675675METALCopper.might get lost (downstream of altered splice site)
679681HELIXmight get lost (downstream of altered splice site)
691704STRANDmight get lost (downstream of altered splice site)
706709HELIXmight get lost (downstream of altered splice site)
714717STRANDmight get lost (downstream of altered splice site)
720723STRANDmight get lost (downstream of altered splice site)
725727STRANDmight get lost (downstream of altered splice site)
736736DISULFIDInterchain.might get lost (downstream of altered splice site)
736736DISULFIDInterchain.might get lost (downstream of altered splice site)
745745CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2256 / 2256
position (AA) of stopcodon in wt / mu AA sequence 752 / 752
position of stopcodon in wt / mu cDNA 2354 / 2354
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 99 / 99
chromosome 7
strand 1
last intron/exon boundary 2088
theoretical NMD boundary in CDS 1939
length of CDS 2256
coding sequence (CDS) position 47
cDNA position
(for ins/del: last normal base / first normal base)		 145
gDNA position
(for ins/del: last normal base / first normal base)		 31891
chromosomal position
(for ins/del: last normal base / first normal base)		 150553605
original gDNA sequence snippet TGCCATCCTGATGCTGCAGACGGCCATGGCGGAGCCCTCCC
altered gDNA sequence snippet TGCCATCCTGATGCTGCAGATGGCCATGGCGGAGCCCTCCC
original cDNA sequence snippet TGCCATCCTGATGCTGCAGACGGCCATGGCGGAGCCCTCCC
altered cDNA sequence snippet TGCCATCCTGATGCTGCAGATGGCCATGGCGGAGCCCTCCC
wildtype AA sequence MPALGWAVAA ILMLQTAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKMH
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
ADQVLPPGWQ EEQAITWARY PLAVTKYRES ELCSSSIYHQ NDPWHPPVVF EQFLHNNENI
ENEDLVAWVT VGFLHIPHSE DIPNTATPGN SVGFLLRPFN FFPEDPSLAS RDTVIVWPRD
NGPNYVQRWI PEDRDCSMPP PFSYNGTYRP V*
mutated AA sequence MPALGWAVAA ILMLQMAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKMH
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
ADQVLPPGWQ EEQAITWARY PLAVTKYRES ELCSSSIYHQ NDPWHPPVVF EQFLHNNENI
ENEDLVAWVT VGFLHIPHSE DIPNTATPGN SVGFLLRPFN FFPEDPSLAS RDTVIVWPRD
NGPNYVQRWI PEDRDCSMPP PFSYNGTYRP V*
speed 1.25 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: 0.999999999999324 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:150553605C>TN/A show variant in all transcripts   IGV
HGNC symbol AOC1
Ensembl transcript ID ENST00000416793
Genbank transcript ID N/A
UniProt peptide P19801
alteration type single base exchange
alteration region CDS
DNA changes c.47C>T
cDNA.107C>T
g.31891C>T
AA changes T16M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 16
frameshift no
known variant Reference ID: rs10156191
databasehomozygous (T/T)heterozygousallele carriers
1000G3368951231
ExAC50062238727393
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4580.013
-0.0380
(flanking)1.4070.005
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased31887wt: 0.24 / mu: 0.27wt: TGGCTGCCATCCTGATGCTGCAGACGGCCATGGCGGAGCCC
mu: TGGCTGCCATCCTGATGCTGCAGATGGCCATGGCGGAGCCC		 ctgc|AGAC
distance from splice site 63
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      16GWAVAAILMLQTAMAEPSPGTLPR
mutated  not conserved    16GWAVAAILMLQMAMAEPSPGTLP
Ptroglodytes  not conserved  ENSPTRG00000019866  16GWAVAAILMLQMAMAEPSPGTLP
Mmulatta  not conserved  ENSMMUG00000020435  15GWAVAAILMLQMAMAEPSLGTLH
Fcatus  all identical  ENSFCAG00000013798  16GWAIATILALQTVAATKCTPRTLH
Mmusculus  all identical  ENSMUSG00000029811  22GWA-AVILLLQTADTASAVTTPH
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000017882  20GLAVAVLVFLASCSASKWRNWAR
Drerio  not conserved  ENSDARG00000061355  10MLLLATLASSSASSRT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
119SIGNALlost
2828CONFLICTR -> A (in Ref. 7; AA sequence).might get lost (downstream of altered splice site)
2933HELIXmight get lost (downstream of altered splice site)
3849HELIXmight get lost (downstream of altered splice site)
5254HELIXmight get lost (downstream of altered splice site)
6475STRANDmight get lost (downstream of altered splice site)
7988HELIXmight get lost (downstream of altered splice site)
96103STRANDmight get lost (downstream of altered splice site)
105108STRANDmight get lost (downstream of altered splice site)
110110CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
110117STRANDmight get lost (downstream of altered splice site)
119121STRANDmight get lost (downstream of altered splice site)
124129STRANDmight get lost (downstream of altered splice site)
137140HELIXmight get lost (downstream of altered splice site)
145158HELIXmight get lost (downstream of altered splice site)
160162HELIXmight get lost (downstream of altered splice site)
163170HELIXmight get lost (downstream of altered splice site)
168168CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
173176STRANDmight get lost (downstream of altered splice site)
177177DISULFIDmight get lost (downstream of altered splice site)
178186STRANDmight get lost (downstream of altered splice site)
181181DISULFIDmight get lost (downstream of altered splice site)
191193STRANDmight get lost (downstream of altered splice site)
198205STRANDmight get lost (downstream of altered splice site)
210212HELIXmight get lost (downstream of altered splice site)
214222STRANDmight get lost (downstream of altered splice site)
225227STRANDmight get lost (downstream of altered splice site)
228230HELIXmight get lost (downstream of altered splice site)
232238STRANDmight get lost (downstream of altered splice site)
246254HELIXmight get lost (downstream of altered splice site)
280280CONFLICTP -> A (in Ref. 1; AAA58358).might get lost (downstream of altered splice site)
290290CONFLICTD -> T (in Ref. 1; AAA58358).might get lost (downstream of altered splice site)
301303STRANDmight get lost (downstream of altered splice site)
309313STRANDmight get lost (downstream of altered splice site)
316320STRANDmight get lost (downstream of altered splice site)
322329STRANDmight get lost (downstream of altered splice site)
330332TURNmight get lost (downstream of altered splice site)
333341STRANDmight get lost (downstream of altered splice site)
344359STRANDmight get lost (downstream of altered splice site)
364368HELIXmight get lost (downstream of altered splice site)
370372STRANDmight get lost (downstream of altered splice site)
373373ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
373376HELIXmight get lost (downstream of altered splice site)
378380HELIXmight get lost (downstream of altered splice site)
387389TURNmight get lost (downstream of altered splice site)
391391DISULFIDmight get lost (downstream of altered splice site)
395405STRANDmight get lost (downstream of altered splice site)
410422STRANDmight get lost (downstream of altered splice site)
417417DISULFIDmight get lost (downstream of altered splice site)
427433STRANDmight get lost (downstream of altered splice site)
435445STRANDmight get lost (downstream of altered splice site)
448456STRANDmight get lost (downstream of altered splice site)
458469STRANDmight get lost (downstream of altered splice site)
461461ACT_SITESchiff-base intermediate with substrate; via topaquinone.might get lost (downstream of altered splice site)
461461MOD_RES2',4',5'-topaquinone.might get lost (downstream of altered splice site)
475483STRANDmight get lost (downstream of altered splice site)
487489STRANDmight get lost (downstream of altered splice site)
492496HELIXmight get lost (downstream of altered splice site)
497502STRANDmight get lost (downstream of altered splice site)
505508STRANDmight get lost (downstream of altered splice site)
510510METALCopper.might get lost (downstream of altered splice site)
510520STRANDmight get lost (downstream of altered splice site)
512512METALCopper.might get lost (downstream of altered splice site)
519519METALCalcium 1.might get lost (downstream of altered splice site)
520520METALCalcium 1; via carbonyl oxygen.might get lost (downstream of altered splice site)
521521METALCalcium 1.might get lost (downstream of altered splice site)
524540STRANDmight get lost (downstream of altered splice site)
538538CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
547559STRANDmight get lost (downstream of altered splice site)
562562METALCalcium 2.might get lost (downstream of altered splice site)
562565HELIXmight get lost (downstream of altered splice site)
568575REGIONHeparin-binding (By similarity).might get lost (downstream of altered splice site)
569571STRANDmight get lost (downstream of altered splice site)
572572CONFLICTK -> R (in Ref. 1; AAA58358).might get lost (downstream of altered splice site)
575584STRANDmight get lost (downstream of altered splice site)
590598STRANDmight get lost (downstream of altered splice site)
592592CONFLICTT -> S (in Ref. 1; AAA58358, 2; CAA55046, 3; AAC50270/AAB60381 and 6; AAH14093).might get lost (downstream of altered splice site)
610619HELIXmight get lost (downstream of altered splice site)
621626STRANDmight get lost (downstream of altered splice site)
629631HELIXmight get lost (downstream of altered splice site)
637641TURNmight get lost (downstream of altered splice site)
643645STRANDmight get lost (downstream of altered splice site)
652655HELIXmight get lost (downstream of altered splice site)
653653METALCalcium 2; via carbonyl oxygen.might get lost (downstream of altered splice site)
656656METALCalcium 2.might get lost (downstream of altered splice site)
658658METALCalcium 2.might get lost (downstream of altered splice site)
661675STRANDmight get lost (downstream of altered splice site)
664664METALCalcium 1.might get lost (downstream of altered splice site)
665665METALCalcium 1; via carbonyl oxygen.might get lost (downstream of altered splice site)
675675METALCopper.might get lost (downstream of altered splice site)
679681HELIXmight get lost (downstream of altered splice site)
691704STRANDmight get lost (downstream of altered splice site)
706709HELIXmight get lost (downstream of altered splice site)
714717STRANDmight get lost (downstream of altered splice site)
720723STRANDmight get lost (downstream of altered splice site)
725727STRANDmight get lost (downstream of altered splice site)
736736DISULFIDInterchain.might get lost (downstream of altered splice site)
736736DISULFIDInterchain.might get lost (downstream of altered splice site)
745745CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2313 / 2313
position (AA) of stopcodon in wt / mu AA sequence 771 / 771
position of stopcodon in wt / mu cDNA 2373 / 2373
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 61 / 61
chromosome 7
strand 1
last intron/exon boundary 2107
theoretical NMD boundary in CDS 1996
length of CDS 2313
coding sequence (CDS) position 47
cDNA position
(for ins/del: last normal base / first normal base)		 107
gDNA position
(for ins/del: last normal base / first normal base)		 31891
chromosomal position
(for ins/del: last normal base / first normal base)		 150553605
original gDNA sequence snippet TGCCATCCTGATGCTGCAGACGGCCATGGCGGAGCCCTCCC
altered gDNA sequence snippet TGCCATCCTGATGCTGCAGATGGCCATGGCGGAGCCCTCCC
original cDNA sequence snippet TGCCATCCTGATGCTGCAGACGGCCATGGCGGAGCCCTCCC
altered cDNA sequence snippet TGCCATCCTGATGCTGCAGATGGCCATGGCGGAGCCCTCCC
wildtype AA sequence MPALGWAVAA ILMLQTAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKMH
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
ADQVLPPGWQ EEQAITWART EGGQPRALSQ AASPVPGRYP LAVTKYRESE LCSSSIYHQN
DPWHPPVVFE QFLHNNENIE NEDLVAWVTV GFLHIPHSED IPNTATPGNS VGFLLRPFNF
FPEDPSLASR DTVIVWPRDN GPNYVQRWIP EDRDCSMPPP FSYNGTYRPV *
mutated AA sequence MPALGWAVAA ILMLQMAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKMH
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
ADQVLPPGWQ EEQAITWART EGGQPRALSQ AASPVPGRYP LAVTKYRESE LCSSSIYHQN
DPWHPPVVFE QFLHNNENIE NEDLVAWVTV GFLHIPHSED IPNTATPGNS VGFLLRPFNF
FPEDPSLASR DTVIVWPRDN GPNYVQRWIP EDRDCSMPPP FSYNGTYRPV *
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
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Problems

annotation problem

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