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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000242839
Querying Taster for transcript #2: ENST00000400366
Querying Taster for transcript #3: ENST00000344297
Querying Taster for transcript #4: ENST00000448424
Querying Taster for transcript #5: ENST00000400370
Querying Taster for transcript #6: ENST00000418097
Querying Taster for transcript #7: ENST00000417240
Querying Taster for transcript #8: ENST00000542656
MT speed 0 s - this script 5.535506 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ATP7Bdisease_causing_automatic0.996995149890714simple_aae0R485Qsingle base exchangers137853285show file
ATP7Bdisease_causing_automatic0.99999999996623simple_aae0G710Ssingle base exchangers137853285show file
ATP7Bdisease_causing_automatic0.99999999996623simple_aae0G710Ssingle base exchangers137853285show file
ATP7Bdisease_causing_automatic0.999999999992916simple_aae0G599Ssingle base exchangers137853285show file
ATP7Bdisease_causing_automatic1without_aae0single base exchangers137853285show file
ATP7Bdisease_causing_automatic1without_aae0single base exchangers137853285show file
ATP7Bdisease_causing_automatic1without_aae0single base exchangers137853285show file
ATP7Bdisease_causing_automatic1without_aae0single base exchangers137853285show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.996995149890714 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960120)
  • known disease mutation at this position (HGMD CM960121)
  • known disease mutation: rs156281 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52532674C>TN/A show variant in all transcripts   IGV
HGNC symbol ATP7B
Ensembl transcript ID ENST00000542656
Genbank transcript ID N/A
UniProt peptide P35670
alteration type single base exchange
alteration region CDS
DNA changes c.1454G>A
cDNA.1499G>A
g.52957G>A
AA changes R485Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 485
frameshift no
known variant Reference ID: rs137853285
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs156281 (pathogenic for Wilson disease|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0280.993
6.0280.999
(flanking)-0.4930.82
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased52954wt: 0.5381 / mu: 0.5590 (marginal change - not scored)wt: CTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTAC
mu: CTGTCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTAC		 ctcc|TCGG
Acc marginally increased52957wt: 0.9808 / mu: 0.9847 (marginal change - not scored)wt: TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT
mu: TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT		 ctcg|GTGG
Acc marginally increased52951wt: 0.4235 / mu: 0.4439 (marginal change - not scored)wt: TCACTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTC
mu: TCACTGTCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTC		 cagc|TCCT
distance from splice site 7
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      485IERNLQKEAAPRWVVLLRSGLQIS
mutated  all conserved    485EAAPQWVVLLRSGLQI
Ptroglodytes  no alignment  ENSPTRG00000005897  n/a
Mmulatta  no alignment  ENSMMUG00000016520  n/a
Fcatus  all identical  ENSFCAG00000003710  374IEGLLSRREGVRRV
Mmusculus  no alignment  ENSMUSG00000006567  n/a
Ggallus  no alignment  ENSGALG00000017021  n/a
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0030343  n/a
Celegans  no alignment  Y76A2A.2  n/a
Xtropicalis  no alignment  ENSXETG00000020713  n/a
protein features
start (aa)end (aa)featuredetails 
1653TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1587 / 1587
position (AA) of stopcodon in wt / mu AA sequence 529 / 529
position of stopcodon in wt / mu cDNA 1632 / 1632
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 46 / 46
chromosome 13
strand -1
last intron/exon boundary 1493
theoretical NMD boundary in CDS 1397
length of CDS 1587
coding sequence (CDS) position 1454
cDNA position
(for ins/del: last normal base / first normal base)		 1499
gDNA position
(for ins/del: last normal base / first normal base)		 52957
chromosomal position
(for ins/del: last normal base / first normal base)		 52532674
original gDNA sequence snippet TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT
altered gDNA sequence snippet TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT
original cDNA sequence snippet GCAGAAAGAAGCTGCTCCTCGGTGGGTGGTACTTCTACGTT
altered cDNA sequence snippet GCAGAAAGAAGCTGCTCCTCAGTGGGTGGTACTTCTACGTT
wildtype AA sequence MKKSFAFDNV GYEGGLDGLG PSSQVATSTV RILGMTCQSC VKSIEDRISN LKGIISMKVS
LEQGSATVKY VPSVVCLQQV CHQIGDMGFE ASIAEGKAAS WPSRSLPAQE AVVKLRVEGM
TCQSCVSSIE GKVRKLQGVV RVKVSLSNQE AVITYQPYLI QPEDLRDHVN DMGFEAAIKS
KVAPLSLGPI DIERLQSTNP KRPLSSANQN FNNSETLGHQ GSHVVTLQLR IDGMHCKSCV
LNIEENIGQL LGVQSIQVSL ENKTAQVKYD PSCTSPVALQ RAIEALPPGN FKVSLPDGAE
GSGTDHRSSS SHSPGSPPRN QVQGTCSTTL IAIAGMTCAS CVHSIEGMIS QLEGVQQISV
SLAEGTATVL YNPSVISPEE LRAAIEDMGF EASVVSESCS TNPLGNHSAG NSMVQTTDGT
PTSVQEVAPH TGRLPANHAP DILAKSPQST RAVAPQKCFL QIKGMTCASC VSNIERNLQK
EAAPRWVVLL RSGLQISETQ VSQHGRAHRP GHKHCLCLFS GHPGGCCG*
mutated AA sequence MKKSFAFDNV GYEGGLDGLG PSSQVATSTV RILGMTCQSC VKSIEDRISN LKGIISMKVS
LEQGSATVKY VPSVVCLQQV CHQIGDMGFE ASIAEGKAAS WPSRSLPAQE AVVKLRVEGM
TCQSCVSSIE GKVRKLQGVV RVKVSLSNQE AVITYQPYLI QPEDLRDHVN DMGFEAAIKS
KVAPLSLGPI DIERLQSTNP KRPLSSANQN FNNSETLGHQ GSHVVTLQLR IDGMHCKSCV
LNIEENIGQL LGVQSIQVSL ENKTAQVKYD PSCTSPVALQ RAIEALPPGN FKVSLPDGAE
GSGTDHRSSS SHSPGSPPRN QVQGTCSTTL IAIAGMTCAS CVHSIEGMIS QLEGVQQISV
SLAEGTATVL YNPSVISPEE LRAAIEDMGF EASVVSESCS TNPLGNHSAG NSMVQTTDGT
PTSVQEVAPH TGRLPANHAP DILAKSPQST RAVAPQKCFL QIKGMTCASC VSNIERNLQK
EAAPQWVVLL RSGLQISETQ VSQHGRAHRP GHKHCLCLFS GHPGGCCG*
speed 0.78 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

disease causing

 Model: simple_aae, prob: 0.99999999996623 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960120)
  • known disease mutation at this position (HGMD CM960121)
  • known disease mutation: rs156281 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52532674C>TN/A show variant in all transcripts   IGV
HGNC symbol ATP7B
Ensembl transcript ID ENST00000242839
Genbank transcript ID NM_000053
UniProt peptide P35670
alteration type single base exchange
alteration region CDS
DNA changes c.2128G>A
cDNA.2285G>A
g.52957G>A
AA changes G710S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 710
frameshift no
known variant Reference ID: rs137853285
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs156281 (pathogenic for Wilson disease|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0280.993
6.0280.999
(flanking)-0.4930.82
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased52954wt: 0.5381 / mu: 0.5590 (marginal change - not scored)wt: CTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTAC
mu: CTGTCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTAC		 ctcc|TCGG
Acc marginally increased52957wt: 0.9808 / mu: 0.9847 (marginal change - not scored)wt: TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT
mu: TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT		 ctcg|GTGG
Acc marginally increased52951wt: 0.4235 / mu: 0.4439 (marginal change - not scored)wt: TCACTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTC
mu: TCACTGTCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTC		 cagc|TCCT
distance from splice site 7
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      710FFILCTFVQLLGGWYFYVQAYKSL
mutated  not conserved    710FFILCTFVQLLSGWYFYVQAYK
Ptroglodytes  all identical  ENSPTRG00000005897  658FFILCTFVQLLGGWYFYVQAYK
Mmulatta  all identical  ENSMMUG00000016520  693FFILCTFVQVLGGWYFYVQAYKS
Fcatus  all identical  ENSFCAG00000003710  698FFILCTFVQLLGGWYFYIQAYRS
Mmusculus  all identical  ENSMUSG00000006567  712FFILCTFVQFLGGWYFYVQAYK
Ggallus  all identical  ENSGALG00000017021  685FFVLCTFVQQQFLGGWYFYIQAYKS
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0030343  433MFLLSTPVQFFGGFHFYVQSYRA
Celegans  all identical  Y76A2A.2  475LLCLCTPVQIFGGRYFYVASWKA
Xtropicalis  all identical  ENSXETG00000020713  665FFILCTFVQTLGGRYFYVQAYKS
protein features
start (aa)end (aa)featuredetails 
698717TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4398 / 4398
position (AA) of stopcodon in wt / mu AA sequence 1466 / 1466
position of stopcodon in wt / mu cDNA 4555 / 4555
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 158 / 158
chromosome 13
strand -1
last intron/exon boundary 4282
theoretical NMD boundary in CDS 4074
length of CDS 4398
coding sequence (CDS) position 2128
cDNA position
(for ins/del: last normal base / first normal base)		 2285
gDNA position
(for ins/del: last normal base / first normal base)		 52957
chromosomal position
(for ins/del: last normal base / first normal base)		 52532674
original gDNA sequence snippet TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT
altered gDNA sequence snippet TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT
original cDNA sequence snippet GTACCTTTGTCCAGCTCCTCGGTGGGTGGTACTTCTACGTT
altered cDNA sequence snippet GTACCTTTGTCCAGCTCCTCAGTGGGTGGTACTTCTACGTT
wildtype AA sequence MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF
GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLG GWYFYVQAYK
SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL
EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP
VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV
KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPNPNKH
ISQTEVIIRF AFQTSITVLC IACPCSLGLA TPTAVMVGTG VAAQNGILIK GGKPLEMAHK
IKTVMFDKTG TITHGVPRVM RVLLLGDVAT LPLRKVLAVV GTAEASSEHP LGVAVTKYCK
EELGTETLGY CTDFQAVPGC GIGCKVSNVE GILAHSERPL SAPASHLNEA GSLPAEKDAV
PQTFSVLIGN REWLRRNGLT ISSDVSDAMT DHEMKGQTAI LVAIDGVLCG MIAIADAVKQ
EAALAVHTLQ SMGVDVVLIT GDNRKTARAI ATQVGINKVF AEVLPSHKVA KVQELQNKGK
KVAMVGDGVN DSPALAQADM GVAIGTGTDV AIEAADVVLI RNDLLDVVAS IHLSKRTVRR
IRINLVLALI YNLVGIPIAA GVFMPIGIVL QPWMGSAAMA ASSVSVVLSS LQLKCYKKPD
LERYEAQAHG HMKPLTASQV SVHIGMDDRW RDSPRATPWD QVSYVSQVSL SSLTSDKPSR
HSAAADDDGD KWSLLLNGRD EEQYI*
mutated AA sequence MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF
GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLS GWYFYVQAYK
SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL
EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP
VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV
KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPNPNKH
ISQTEVIIRF AFQTSITVLC IACPCSLGLA TPTAVMVGTG VAAQNGILIK GGKPLEMAHK
IKTVMFDKTG TITHGVPRVM RVLLLGDVAT LPLRKVLAVV GTAEASSEHP LGVAVTKYCK
EELGTETLGY CTDFQAVPGC GIGCKVSNVE GILAHSERPL SAPASHLNEA GSLPAEKDAV
PQTFSVLIGN REWLRRNGLT ISSDVSDAMT DHEMKGQTAI LVAIDGVLCG MIAIADAVKQ
EAALAVHTLQ SMGVDVVLIT GDNRKTARAI ATQVGINKVF AEVLPSHKVA KVQELQNKGK
KVAMVGDGVN DSPALAQADM GVAIGTGTDV AIEAADVVLI RNDLLDVVAS IHLSKRTVRR
IRINLVLALI YNLVGIPIAA GVFMPIGIVL QPWMGSAAMA ASSVSVVLSS LQLKCYKKPD
LERYEAQAHG HMKPLTASQV SVHIGMDDRW RDSPRATPWD QVSYVSQVSL SSLTSDKPSR
HSAAADDDGD KWSLLLNGRD EEQYI*
speed 0.84 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

disease causing

 Model: simple_aae, prob: 0.99999999996623 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960120)
  • known disease mutation at this position (HGMD CM960121)
  • known disease mutation: rs156281 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52532674C>TN/A show variant in all transcripts   IGV
HGNC symbol ATP7B
Ensembl transcript ID ENST00000418097
Genbank transcript ID N/A
UniProt peptide P35670
alteration type single base exchange
alteration region CDS
DNA changes c.2128G>A
cDNA.2202G>A
g.52957G>A
AA changes G710S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 710
frameshift no
known variant Reference ID: rs137853285
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs156281 (pathogenic for Wilson disease|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0280.993
6.0280.999
(flanking)-0.4930.82
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased52954wt: 0.5381 / mu: 0.5590 (marginal change - not scored)wt: CTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTAC
mu: CTGTCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTAC		 ctcc|TCGG
Acc marginally increased52957wt: 0.9808 / mu: 0.9847 (marginal change - not scored)wt: TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT
mu: TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT		 ctcg|GTGG
Acc marginally increased52951wt: 0.4235 / mu: 0.4439 (marginal change - not scored)wt: TCACTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTC
mu: TCACTGTCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTC		 cagc|TCCT
distance from splice site 7
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      710FFILCTFVQLLGGWYFYVQAYKSL
mutated  not conserved    710FFILCTFVQLLSGWYFYVQAYK
Ptroglodytes  all identical  ENSPTRG00000005897  658FFILCTFVQLLGGWYFYVQAYK
Mmulatta  all identical  ENSMMUG00000016520  693FFILCTFVQVLGGWYFYVQAYKS
Fcatus  all identical  ENSFCAG00000003710  698FFILCTFVQLLGGWYFYIQAYRS
Mmusculus  all identical  ENSMUSG00000006567  712FFILCTFVQFLGGWYFYVQAYK
Ggallus  all identical  ENSGALG00000017021  685FFVLCTFVQQQFLGGWYFYIQAYKS
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0030343  433MFLLSTPVQFFGGFHFYVQSYRA
Celegans  all identical  Y76A2A.2  475LLCLCTPVQIFGGRYFYVASWKA
Xtropicalis  all identical  ENSXETG00000020713  665FFILCTFVQTLGGRYFYVQAYKS
protein features
start (aa)end (aa)featuredetails 
698717TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4203 / 4203
position (AA) of stopcodon in wt / mu AA sequence 1401 / 1401
position of stopcodon in wt / mu cDNA 4277 / 4277
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 75 / 75
chromosome 13
strand -1
last intron/exon boundary 4004
theoretical NMD boundary in CDS 3879
length of CDS 4203
coding sequence (CDS) position 2128
cDNA position
(for ins/del: last normal base / first normal base)		 2202
gDNA position
(for ins/del: last normal base / first normal base)		 52957
chromosomal position
(for ins/del: last normal base / first normal base)		 52532674
original gDNA sequence snippet TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT
altered gDNA sequence snippet TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT
original cDNA sequence snippet GTACCTTTGTCCAGCTCCTCGGTGGGTGGTACTTCTACGTT
altered cDNA sequence snippet GTACCTTTGTCCAGCTCCTCAGTGGGTGGTACTTCTACGTT
wildtype AA sequence MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF
GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLG GWYFYVQAYK
SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL
EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP
VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV
KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPIKTVM
FDKTGTITHG VPRVMRVLLL GDVATLPLRK VLAVVGTAEA SSEHPLGVAV TKYCKEELGT
ETLGYCTDFQ AVPGCGIGCK VSNVEGILAH SERPLSAPAS HLNEAGSLPA EKDAVPQTFS
VLIGNREWLR RNGLTISSDV SDAMTDHEMK GQTAILVAID GVLCGMIAIA DAVKQEAALA
VHTLQSMGVD VVLITGDNRK TARAIATQVG INKVFAEVLP SHKVAKVQEL QNKGKKVAMV
GDGVNDSPAL AQADMGVAIG TGTDVAIEAA DVVLIRNDLL DVVASIHLSK RTVRRIRINL
VLALIYNLVG IPIAAGVFMP IGIVLQPWMG SAAMAASSVS VVLSSLQLKC YKKPDLERYE
AQAHGHMKPL TASQVSVHIG MDDRWRDSPR ATPWDQVSYV SQVSLSSLTS DKPSRHSAAA
DDDGDKWSLL LNGRDEEQYI *
mutated AA sequence MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF
GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLS GWYFYVQAYK
SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL
EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP
VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV
KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPIKTVM
FDKTGTITHG VPRVMRVLLL GDVATLPLRK VLAVVGTAEA SSEHPLGVAV TKYCKEELGT
ETLGYCTDFQ AVPGCGIGCK VSNVEGILAH SERPLSAPAS HLNEAGSLPA EKDAVPQTFS
VLIGNREWLR RNGLTISSDV SDAMTDHEMK GQTAILVAID GVLCGMIAIA DAVKQEAALA
VHTLQSMGVD VVLITGDNRK TARAIATQVG INKVFAEVLP SHKVAKVQEL QNKGKKVAMV
GDGVNDSPAL AQADMGVAIG TGTDVAIEAA DVVLIRNDLL DVVASIHLSK RTVRRIRINL
VLALIYNLVG IPIAAGVFMP IGIVLQPWMG SAAMAASSVS VVLSSLQLKC YKKPDLERYE
AQAHGHMKPL TASQVSVHIG MDDRWRDSPR ATPWDQVSYV SQVSLSSLTS DKPSRHSAAA
DDDGDKWSLL LNGRDEEQYI *
speed 0.91 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

disease causing

 Model: simple_aae, prob: 0.999999999992916 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960120)
  • known disease mutation at this position (HGMD CM960121)
  • known disease mutation: rs156281 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52532674C>TN/A show variant in all transcripts   IGV
HGNC symbol ATP7B
Ensembl transcript ID ENST00000400366
Genbank transcript ID NM_001243182
UniProt peptide P35670
alteration type single base exchange
alteration region CDS
DNA changes c.1795G>A
cDNA.1952G>A
g.52957G>A
AA changes G599S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 599
frameshift no
known variant Reference ID: rs137853285
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs156281 (pathogenic for Wilson disease|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0280.993
6.0280.999
(flanking)-0.4930.82
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased52954wt: 0.5381 / mu: 0.5590 (marginal change - not scored)wt: CTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTAC
mu: CTGTCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTAC		 ctcc|TCGG
Acc marginally increased52957wt: 0.9808 / mu: 0.9847 (marginal change - not scored)wt: TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT
mu: TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT		 ctcg|GTGG
Acc marginally increased52951wt: 0.4235 / mu: 0.4439 (marginal change - not scored)wt: TCACTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTC
mu: TCACTGTCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTC		 cagc|TCCT
distance from splice site 7
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      599FFILCTFVQLLGGWYFYVQAYKSL
mutated  not conserved    599FFILCTFVQLLSGWYFYVQAYKS
Ptroglodytes  all identical  ENSPTRG00000005897  658QLLGGWYFYVQAYKS
Mmulatta  all identical  ENSMMUG00000016520  693FFILCTFVQVLGGWYFYVQAYKS
Fcatus  all identical  ENSFCAG00000003710  698FFILCTFVQLLGGWYFYIQAYRS
Mmusculus  all identical  ENSMUSG00000006567  712FFILCTFVQFLGGWYFYVQAYKS
Ggallus  all identical  ENSGALG00000017021  685FFVLCTFVQQQFLGGWYFYIQ
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0030343  432MFLLSTPVQFFGGFHFYVQSYRA
Celegans  all identical  Y76A2A.2  476LLCLCTPVQIFGGRYFYVASWKA
Xtropicalis  all identical  ENSXETG00000020713  665FFILCTFVQTLGGRYFYVQAYKS
protein features
start (aa)end (aa)featuredetails 
1653TOPO_DOMCytoplasmic (Potential).lost
565631DOMAINHMA 6.lost
599602TURNlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4065 / 4065
position (AA) of stopcodon in wt / mu AA sequence 1355 / 1355
position of stopcodon in wt / mu cDNA 4222 / 4222
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 158 / 158
chromosome 13
strand -1
last intron/exon boundary 3949
theoretical NMD boundary in CDS 3741
length of CDS 4065
coding sequence (CDS) position 1795
cDNA position
(for ins/del: last normal base / first normal base)		 1952
gDNA position
(for ins/del: last normal base / first normal base)		 52957
chromosomal position
(for ins/del: last normal base / first normal base)		 52532674
original gDNA sequence snippet TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT
altered gDNA sequence snippet TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT
original cDNA sequence snippet GTACCTTTGTCCAGCTCCTCGGTGGGTGGTACTTCTACGTT
altered cDNA sequence snippet GTACCTTTGTCCAGCTCCTCAGTGGGTGGTACTTCTACGTT
wildtype AA sequence MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCMI SQLEGVQQIS VSLAEGTATV LYNPSVISPE
ELRAAIEDMG FEASVVSESC STNPLGNHSA GNSMVQTTDG TPTSVQEVAP HTGRLPANHA
PDILAKSPQS TRAVAPQKCF LQIKGMTCAS CVSNIERNLQ KEAGVLSVLV ALMAGKAEIK
YDPEVIQPLE IAQFIQDLGF EAAVMEDYAG SDGNIELTIT GMTCASCVHN IESKLTRTNG
ITYASVALAT SKALVKFDPE IIGPRDIIKI IEEIGFHASL AQRNPNAHHL DHKMEIKQWK
KSFLCSLVFG IPVMALMIYM LIPSNEPHQS MVLDHNIIPG LSILNLIFFI LCTFVQLLGG
WYFYVQAYKS LRHRSANMDV LIVLATSIAY VYSLVILVVA VAEKAERSPV TFFDTPPMLF
VFIALGRWLE HLAKSKTSEA LAKLMSLQAT EATVVTLGED NLIIREEQVP MELVQRGDIV
KVVPGGKFPV DGKVLEGNTM ADESLITGEA MPVTKKPGST VIAGSINAHG SVLIKATHVG
NDTTLAQIVK LVEEAQMSKA PIQQLADRFS GYFVPFIIIM STLTLVVWIV IGFIDFGVVQ
RYFPNPNKHI SQTEVIIRFA FQTSITVLCI ACPCSLGLAT PTAVMVGTGV AAQNGILIKG
GKPLEMAHKI KTVMFDKTGT ITHGVPRVMR VLLLGDVATL PLRKVLAVVG TAEASSEHPL
GVAVTKYCKE ELGTETLGYC TDFQAVPGCG IGCKVSNVEG ILAHSERPLS APASHLNEAG
SLPAEKDAVP QTFSVLIGNR EWLRRNGLTI SSDVSDAMTD HEMKGQTAIL VAIDGVLCGM
IAIADAVKQE AALAVHTLQS MGVDVVLITG DNRKTARAIA TQVGINKVFA EVLPSHKVAK
VQELQNKGKK VAMVGDGVND SPALAQADMG VAIGTGTDVA IEAADVVLIR NDLLDVVASI
HLSKRTVRRI RINLVLALIY NLVGIPIAAG VFMPIGIVLQ PWMGSAAMAA SSVSVVLSSL
QLKCYKKPDL ERYEAQAHGH MKPLTASQVS VHIGMDDRWR DSPRATPWDQ VSYVSQVSLS
SLTSDKPSRH SAAADDDGDK WSLLLNGRDE EQYI*
mutated AA sequence MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCMI SQLEGVQQIS VSLAEGTATV LYNPSVISPE
ELRAAIEDMG FEASVVSESC STNPLGNHSA GNSMVQTTDG TPTSVQEVAP HTGRLPANHA
PDILAKSPQS TRAVAPQKCF LQIKGMTCAS CVSNIERNLQ KEAGVLSVLV ALMAGKAEIK
YDPEVIQPLE IAQFIQDLGF EAAVMEDYAG SDGNIELTIT GMTCASCVHN IESKLTRTNG
ITYASVALAT SKALVKFDPE IIGPRDIIKI IEEIGFHASL AQRNPNAHHL DHKMEIKQWK
KSFLCSLVFG IPVMALMIYM LIPSNEPHQS MVLDHNIIPG LSILNLIFFI LCTFVQLLSG
WYFYVQAYKS LRHRSANMDV LIVLATSIAY VYSLVILVVA VAEKAERSPV TFFDTPPMLF
VFIALGRWLE HLAKSKTSEA LAKLMSLQAT EATVVTLGED NLIIREEQVP MELVQRGDIV
KVVPGGKFPV DGKVLEGNTM ADESLITGEA MPVTKKPGST VIAGSINAHG SVLIKATHVG
NDTTLAQIVK LVEEAQMSKA PIQQLADRFS GYFVPFIIIM STLTLVVWIV IGFIDFGVVQ
RYFPNPNKHI SQTEVIIRFA FQTSITVLCI ACPCSLGLAT PTAVMVGTGV AAQNGILIKG
GKPLEMAHKI KTVMFDKTGT ITHGVPRVMR VLLLGDVATL PLRKVLAVVG TAEASSEHPL
GVAVTKYCKE ELGTETLGYC TDFQAVPGCG IGCKVSNVEG ILAHSERPLS APASHLNEAG
SLPAEKDAVP QTFSVLIGNR EWLRRNGLTI SSDVSDAMTD HEMKGQTAIL VAIDGVLCGM
IAIADAVKQE AALAVHTLQS MGVDVVLITG DNRKTARAIA TQVGINKVFA EVLPSHKVAK
VQELQNKGKK VAMVGDGVND SPALAQADMG VAIGTGTDVA IEAADVVLIR NDLLDVVASI
HLSKRTVRRI RINLVLALIY NLVGIPIAAG VFMPIGIVLQ PWMGSAAMAA SSVSVVLSSL
QLKCYKKPDL ERYEAQAHGH MKPLTASQVS VHIGMDDRWR DSPRATPWDQ VSYVSQVSLS
SLTSDKPSRH SAAADDDGDK WSLLLNGRDE EQYI*
speed 0.37 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

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM960120)
  • known disease mutation at this position (HGMD CM960121)
  • known disease mutation: rs156281 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52532674C>TN/A show variant in all transcripts   IGV
HGNC symbol ATP7B
Ensembl transcript ID ENST00000344297
Genbank transcript ID NM_001005918
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.52957G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs137853285
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs156281 (pathogenic for Wilson disease|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0280.993
6.0280.999
(flanking)-0.4930.82
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased52954wt: 0.5381 / mu: 0.5590 (marginal change - not scored)wt: CTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTAC
mu: CTGTCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTAC		 ctcc|TCGG
Acc marginally increased52957wt: 0.9808 / mu: 0.9847 (marginal change - not scored)wt: TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT
mu: TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT		 ctcg|GTGG
Acc marginally increased52951wt: 0.4235 / mu: 0.4439 (marginal change - not scored)wt: TCACTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTC
mu: TCACTGTCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTC		 cagc|TCCT
distance from splice site 931
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 158 / 158
chromosome 13
strand -1
last intron/exon boundary 3661
theoretical NMD boundary in CDS 3453
length of CDS 3777
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 52957
chromosomal position
(for ins/del: last normal base / first normal base)		 52532674
original gDNA sequence snippet TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT
altered gDNA sequence snippet TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIESKTSEAL AKLMSLQATE ATVVTLGEDN LIIREEQVPM
ELVQRGDIVK VVPGGKFPVD GKVLEGNTMA DESLITGEAM PVTKKPGSTV IAGSINAHGS
VLIKATHVGN DTTLAQIVKL VEEAQMSKNP NKHISQTEVI IRFAFQTSIT VLCIACPCSL
GLATPTAVMV GTGVAAQNGI LIKGGKPLEM AHKIKTVMFD KTGTITHGVP RVMRVLLLGD
VATLPLRKVL AVVGTAEASS EHPLGVAVTK YCKEELGTET LGYCTDFQAV PGCGIGCKVS
NVEGILAHSE RPLSAPASHL NEAGSLPAEK DAVPQTFSVL IGNREWLRRN GLTISSDVSD
AMTDHEMKGQ TAILVAIDGV LCGMIAIADA VKQEAALAVH TLQSMGVDVV LITGDNRKTA
RAIATQVGIN KVFAEVLPSH KVAKVQELQN KGKKVAMVGD GVNDSPALAQ ADMGVAIGTG
TDVAIEAADV VLIRNDLLDV VASIHLSKRT VRRIRINLVL ALIYNLVGIP IAAGVFMPIG
IVLQPWMGSA AMAASSVSVV LSSLQLKCYK KPDLERYEAQ AHGHMKPLTA SQVSVHIGMD
DRWRDSPRAT PWDQVSYVSQ VSLSSLTSDK PSRHSAAADD DGDKWSLLLN GRDEEQYI*
mutated AA sequence N/A
speed 0.63 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

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM960120)
  • known disease mutation at this position (HGMD CM960121)
  • known disease mutation: rs156281 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52532674C>TN/A show variant in all transcripts   IGV
HGNC symbol ATP7B
Ensembl transcript ID ENST00000448424
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.52957G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs137853285
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs156281 (pathogenic for Wilson disease|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0280.993
6.0280.999
(flanking)-0.4930.82
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased52954wt: 0.5381 / mu: 0.5590 (marginal change - not scored)wt: CTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTAC
mu: CTGTCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTAC		 ctcc|TCGG
Acc marginally increased52957wt: 0.9808 / mu: 0.9847 (marginal change - not scored)wt: TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT
mu: TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT		 ctcg|GTGG
Acc marginally increased52951wt: 0.4235 / mu: 0.4439 (marginal change - not scored)wt: TCACTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTC
mu: TCACTGTCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTC		 cagc|TCCT
distance from splice site 931
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 75 / 75
chromosome 13
strand -1
last intron/exon boundary 3965
theoretical NMD boundary in CDS 3840
length of CDS 4164
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 52957
chromosomal position
(for ins/del: last normal base / first normal base)		 52532674
original gDNA sequence snippet TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT
altered gDNA sequence snippet TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF
GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQSKT SEALAKLMSL
QATEATVVTL GEDNLIIREE QVPMELVQRG DIVKVVPGGK FPVDGKVLEG NTMADESLIT
GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT HVGNDTTLAQ IVKLVEEAQM SKAPIQQLAD
RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG VVQRYFPNPN KHISQTEVII RFAFQTSITV
LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKIKTVMFDK TGTITHGVPR
VMRVLLLGDV ATLPLRKVLA VVGTAEASSE HPLGVAVTKY CKEELGTETL GYCTDFQAVP
GCGIGCKVSN VEGILAHSER PLSAPASHLN EAGSLPAEKD AVPQTFSVLI GNREWLRRNG
LTISSDVSDA MTDHEMKGQT AILVAIDGVL CGMIAIADAV KQEAALAVHT LQSMGVDVVL
ITGDNRKTAR AIATQVGINK VFAEVLPSHK VAKVQELQNK GKKVAMVGDG VNDSPALAQA
DMGVAIGTGT DVAIEAADVV LIRNDLLDVV ASIHLSKRTV RRIRINLVLA LIYNLVGIPI
AAGVFMPIGI VLQPWMGSAA MAASSVSVVL SSLQLKCYKK PDLERYEAQA HGHMKPLTAS
QVSVHIGMDD RWRDSPRATP WDQVSYVSQV SLSSLTSDKP SRHSAAADDD GDKWSLLLNG
RDEEQYI*
mutated AA sequence N/A
speed 0.24 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

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM960120)
  • known disease mutation at this position (HGMD CM960121)
  • known disease mutation: rs156281 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52532674C>TN/A show variant in all transcripts   IGV
HGNC symbol ATP7B
Ensembl transcript ID ENST00000400370
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.52957G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs137853285
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs156281 (pathogenic for Wilson disease|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0280.993
6.0280.999
(flanking)-0.4930.82
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased52954wt: 0.5381 / mu: 0.5590 (marginal change - not scored)wt: CTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTAC
mu: CTGTCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTAC		 ctcc|TCGG
Acc marginally increased52957wt: 0.9808 / mu: 0.9847 (marginal change - not scored)wt: TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT
mu: TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT		 ctcg|GTGG
Acc marginally increased52951wt: 0.4235 / mu: 0.4439 (marginal change - not scored)wt: TCACTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTC
mu: TCACTGTCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTC		 cagc|TCCT
distance from splice site 8377
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 75 / 75
chromosome 13
strand -1
last intron/exon boundary 2909
theoretical NMD boundary in CDS 2784
length of CDS 3108
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 52957
chromosomal position
(for ins/del: last normal base / first normal base)		 52532674
original gDNA sequence snippet TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT
altered gDNA sequence snippet TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV KLVEEAQMSK
APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPNPNKH ISQTEVIIRF
AFQTSITVLC IACPCSLGLA TPTAVMVGTG VAAQNGILIK GGKPLEMAHK IKTVMFDKTG
TITHGVPRVM RVLLLGDVAT LPLRKVLAVV GTAEASSEHP LGVAVTKYCK EELGTETLGY
CTDFQAVPGC GIGCKVSNVE GILAHSERPL SAPASHLNEA GSLPAEKDAV PQTFSVLIGN
REWLRRNGLT ISSDVSDAMT DHEMKGQTAI LVAIDGVLCG MIAIADAVKQ EAALAVHTLQ
SMGVDVVLIT GDNRKTARAI ATQVGINKVF AEVLPSHKVA KVQELQNKGK KVAMVGDGVN
DSPALAQADM GVAIGTGTDV AIEAADVVLI RNDLLDVVAS IHLSKRTVRR IRINLVLALI
YNLVGIPIAA GVFMPIGIVL QPWMGSAAMA ASSVSVVLSS LQLKCYKKPD LERYEAQAHG
HMKPLTASQV SVHIGMDDRW RDSPRATPWD QVSYVSQVSL SSLTSDKPSR HSAAADDDGD
KWSLLLNGRD EEQYI*
mutated AA sequence N/A
speed 0.73 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

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM960120)
  • known disease mutation at this position (HGMD CM960121)
  • known disease mutation: rs156281 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52532674C>TN/A show variant in all transcripts   IGV
HGNC symbol ATP7B
Ensembl transcript ID ENST00000417240
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.86G>A
g.52957G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs137853285
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs156281 (pathogenic for Wilson disease|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960121)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0280.993
6.0280.999
(flanking)-0.4930.82
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased52954wt: 0.5381 / mu: 0.5590 (marginal change - not scored)wt: CTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTAC
mu: CTGTCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTAC		 ctcc|TCGG
Acc marginally increased52957wt: 0.9808 / mu: 0.9847 (marginal change - not scored)wt: TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT
mu: TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT		 ctcg|GTGG
Acc marginally increased52951wt: 0.4235 / mu: 0.4439 (marginal change - not scored)wt: TCACTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTC
mu: TCACTGTCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTC		 cagc|TCCT
distance from splice site 7
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 143 / 143
chromosome 13
strand -1
last intron/exon boundary 1900
theoretical NMD boundary in CDS 1707
length of CDS 2031
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 86
gDNA position
(for ins/del: last normal base / first normal base)		 52957
chromosomal position
(for ins/del: last normal base / first normal base)		 52532674
original gDNA sequence snippet TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT
altered gDNA sequence snippet TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT
original cDNA sequence snippet ATGGAAATAAAGCACTCCTCGGTGGGTGGTACTTCTACGTT
altered cDNA sequence snippet ATGGAAATAAAGCACTCCTCAGTGGGTGGTACTTCTACGTT
wildtype AA sequence MDVLIVLATS IAYVYSLVIL VVAVAEKAER SPVTFFDTPP MLFVFIALGR WLEHLAKSKT
SEALAKLMSL QATEATVVTL GEDNLIIREE QVPMELVQRG DIVKVVPGGK FPVDGKVLEG
NTMADESLIT GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT HVGNDTTLAQ IVKLVEEAQM
SKAPIQQLAD RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG VVQRYFPNPN KHISQTEVII
RFAFQTSITV LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKELGTETLG
YCTDFQAVPG CGIGCKVSNV EGILAHSERP LSAPASHLNE AGSLPAEKDA VPQTFSVLIG
NREWLRRNGL TISSDVSDAM TDHEMKGQTA ILVAIDGVLC GMIAIADAVK QEAALAVHTL
QSMGVDVVLI TGDNRKTARA IATQVGINKV FAEVLPSHKV AKVQELQNKG KKVAMVGDGV
NDSPALAQAD MGVAIGTGTD VAIEAADVVL IRNDLLDVVA SIHLSKRTVR RIRINLVLAL
IYNLVGIPIA AGVFMPIGIV LQPWMGSAAM AASSVSVVLS SLQLKCYKKP DLERYEAQAH
GHMKPLTASQ VSVHIGMDDR WRDSPRATPW DQVSYVSQVS LSSLTSDKPS RHSAAADDDG
DKWSLLLNGR DEEQYI*
mutated AA sequence N/A
speed 0.29 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

Problems