Yum, tasty mutations...

MutationT@ster 2025

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...
Querying Taster for transcript #1: ENST00000475805
Querying Taster for transcript #2: ENST00000341179
Querying Taster for transcript #3: ENST00000372923
Querying Taster for transcript #4: ENST00000393594
Querying Taster for transcript #5: ENST00000706053
Querying Taster for transcript #6: ENST00000627543
Querying Taster for transcript #7: ENST00000634267
Querying Taster for transcript #8: ENST00000627061
Querying Taster for transcript #9: ENST00000486160
Querying Taster for transcript #10: ENST00000628346
MT speed 2.67 s - this script 5.182157 s

Transcript summary:

Permalink
TranscriptGene symbolPredictionTree voteModelPrediction problemSplice site changeKnown ClinVar disease mutationPotential ClinVar disease mutationAmino acid changesVariant typedbSNP IDProtein lengthFeatures at a glance
ENST00000372923(MANE Select)
DNM1Deleterious98|2simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 520569 (pathogenic)
  • Protein features (might be) affected
DNM1Deleterious99|1simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 520569 (pathogenic)
  • Protein features (might be) affected
DNM1Deleterious99|1simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 520569 (pathogenic)
  • Protein features (might be) affected
DNM1Deleterious99|1simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 520569 (pathogenic)
  • Protein features (might be) affected
DNM1Deleterious100|0simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 520569 (pathogenic)
  • Protein features (might be) affected
DNM1Deleterious100|0simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 520569 (pathogenic)
DNM1Deleterious100|0simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 520569 (pathogenic)
  • Protein features (might be) affected
DNM1Deleterious100|0simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 520569 (pathogenic)
DNM1Deleterious100|0simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 520569 (pathogenic)
DNM1Deleterious100|0simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 520569 (pathogenic)
Yum, tasty mutations...

MutationT@ster 2025

Variant:

9:128222854G>A_3_ENST00000372923

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 98|2 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr9:128222854G>A (GRCh38)
Gene symbol DNM1
Gene constraints LOEUF: 0.42, LOF (oe): 0.30, misssense (oe): 0.58, synonymous (oe): 1.00 ? (gnomAD)
Ensembl transcript ID ENST00000372923.8
Genbank transcript ID NM_004408 (exact from MANE)
UniProt / AlphaMissense peptide DYN1_HUMAN | AlphaMissense: transcript, gene
Variant type Single base exchange
Gene region CDS
DNA changes c.1190G>A
g.31200G>A
AA changes
AAE:G397D?
Score:94
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Inborn genetic diseasespathogenicClinVar
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      397REISYAIKNIHGIRTGLFTPDMAF
mutated  not conserved    397REISYAIKNIHDIRTGLFTPDMA
Ptroglodytes  all identical    394REISYAIKNIHGIRTGLFTPDMA
Mmulatta  all identical    397REISYAIKNIHGIRTGLFTPDMA
Fcatus  all identical    397REISYAIKNIHGIRTGLFTPDLA
Mmusculus  all identical    397REISYAIKNIHGIRTGLFTPDMA
Ggallus  all identical    397REISYAIKNIHGIRTGLFTPDMA
Trubripes  all identical    397REISYAIKNIHGIRTGLFTPDMA
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical    397REISYAIKNIHGIRTGLFTPDMA
Protein features
Start (aa)End (aa)FeatureDetails 
1864CHAINlost
Phylogenetic conservation
PhyloPPhastCons
(flanking)10.0031
10.0031
(flanking)0.8851
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 7
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 9
Strand 1
Original gDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGC
Altered gDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGGCACGTATTGGGGC
Original cDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGAACGGGGCTGTTTA
Altered cDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGAACGGGGCTGTTTA
Wildtype AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHGIRT GLFTPDMAFE TIVKKQVKKI
REPCLKCVDM VISELISTVR QCTKKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
PGVPSRSGQA SPSRPESPRP PFDL*
Mutated AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHDIRT GLFTPDMAFE TIVKKQVKKI
REPCLKCVDM VISELISTVR QCTKKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
PGVPSRSGQA SPSRPESPRP PFDL*
Position of stopcodon in wt / mu CDS 2595 / 2595
Position (AA) of stopcodon in wt / mu AA sequence 865 / 865
Position of stopcodon in wt / mu cDNA 2687 / 2687
Position of start ATG in wt / mu cDNA 93 / 93
Last intron/exon boundary 2626
Theoretical NMD boundary in CDS 2483
Length of CDS 2595
Coding sequence (CDS) position 1190
cDNA position 1282
gDNA position 31200
Chromosomal position 128222854
Speed 0.11 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table
Yum, tasty mutations...

MutationT@ster 2025

Variant:

9:128222854G>A_2_ENST00000341179

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 99|1 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr9:128222854G>A (GRCh38)
Gene symbol DNM1
Gene constraints LOEUF: 0.41, LOF (oe): 0.29, misssense (oe): 0.57, synonymous (oe): 1.01 ? (gnomAD)
Ensembl transcript ID ENST00000341179.11
Genbank transcript ID NM_001005336 (by similarity)
UniProt / AlphaMissense peptide DYN1_HUMAN | AlphaMissense: transcript, gene
Variant type Single base exchange
Gene region CDS
DNA changes c.1190G>A
g.31200G>A
AA changes
AAE:G397D?
Score:94
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Inborn genetic diseasespathogenicClinVar
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      397REISYAIKNIHGIRTGLFTPDMAF
mutated  not conserved    397REISYAIKNIHDIRTGLFTPDMA
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
Protein features
Start (aa)End (aa)FeatureDetails 
1864CHAINlost
Phylogenetic conservation
PhyloPPhastCons
(flanking)10.0031
10.0031
(flanking)0.8851
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 7
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 9
Strand 1
Original gDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGC
Altered gDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGGCACGTATTGGGGC
Original cDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGAACGGGGCTGTTTA
Altered cDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGAACGGGGCTGTTTA
Wildtype AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHGIRT GLFTPDMAFE TIVKKQVKKI
REPCLKCVDM VISELISTVR QCTKKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
PGVPRITISD P*
Mutated AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHDIRT GLFTPDMAFE TIVKKQVKKI
REPCLKCVDM VISELISTVR QCTKKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
PGVPRITISD P*
Position of stopcodon in wt / mu CDS 2556 / 2556
Position (AA) of stopcodon in wt / mu AA sequence 852 / 852
Position of stopcodon in wt / mu cDNA 2648 / 2648
Position of start ATG in wt / mu cDNA 93 / 93
Last intron/exon boundary 2663
Theoretical NMD boundary in CDS 2520
Length of CDS 2556
Coding sequence (CDS) position 1190
cDNA position 1282
gDNA position 31200
Chromosomal position 128222854
Speed 0.13 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table
Yum, tasty mutations...

MutationT@ster 2025

Variant:

9:128222854G>A_6_ENST00000627543

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 99|1 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr9:128222854G>A (GRCh38)
Gene symbol DNM1
Gene constraints LOEUF: 0.41, LOF (oe): 0.29, misssense (oe): 0.57, synonymous (oe): 1.01 ? (gnomAD)
Ensembl transcript ID ENST00000627543.2
Genbank transcript ID
UniProt / AlphaMissense peptide DYN1_HUMAN | AlphaMissense: transcript, gene
Variant type Single base exchange
Gene region CDS
DNA changes c.1190G>A
g.31200G>A
AA changes
AAE:G397D?
Score:94
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Inborn genetic diseasespathogenicClinVar
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      397REISYAIKNIHGIRTGLFTPDMAF
mutated  not conserved    397REISYAIKNIHDIRTGLFTPDMA
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
Protein features
Start (aa)End (aa)FeatureDetails 
1864CHAINlost
Phylogenetic conservation
PhyloPPhastCons
(flanking)10.0031
10.0031
(flanking)0.8851
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 7
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 9
Strand 1
Original gDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGC
Altered gDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGGCACGTATTGGGGC
Original cDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGAACGGGGCTGTTTA
Altered cDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGAACGGGGCTGTTTA
Wildtype AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHGIRT GLFTPDMAFE TIVKKQVKKI
REPCLKCVDM VISELISTVR QCTKKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
PGVPRITISD P*
Mutated AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHDIRT GLFTPDMAFE TIVKKQVKKI
REPCLKCVDM VISELISTVR QCTKKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
PGVPRITISD P*
Position of stopcodon in wt / mu CDS 2556 / 2556
Position (AA) of stopcodon in wt / mu AA sequence 852 / 852
Position of stopcodon in wt / mu cDNA 2610 / 2610
Position of start ATG in wt / mu cDNA 55 / 55
Last intron/exon boundary 2588
Theoretical NMD boundary in CDS 2483
Length of CDS 2556
Coding sequence (CDS) position 1190
cDNA position 1244
gDNA position 31200
Chromosomal position 128222854
Speed 0.37 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table
Yum, tasty mutations...

MutationT@ster 2025

Variant:

9:128222854G>A_9_ENST00000486160

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 99|1 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr9:128222854G>A (GRCh38)
Gene symbol DNM1
Gene constraints LOEUF: 0.38, LOF (oe): 0.27, misssense (oe): 0.57, synonymous (oe): 1.02 ? (gnomAD)
Ensembl transcript ID ENST00000486160.3
Genbank transcript ID NM_001288739 (by similarity)
UniProt / AlphaMissense peptide DYN1_HUMAN | AlphaMissense: transcript, gene
Variant type Single base exchange
Gene region CDS
DNA changes c.1190G>A
g.31200G>A
AA changes
AAE:G397D?
Score:94
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Inborn genetic diseasespathogenicClinVar
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      397REISYAIKNIHGIRTGLFTPDLAF
mutated  not conserved    397REISYAIKNIHDIRTGLFTPDLA
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
Protein features
Start (aa)End (aa)FeatureDetails 
1864CHAINlost
Phylogenetic conservation
PhyloPPhastCons
(flanking)10.0031
10.0031
(flanking)0.8851
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 7
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 9
Strand 1
Original gDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGC
Altered gDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGGCACGTATTGGGGC
Original cDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGGACGGGCCTCTTCA
Altered cDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGGACGGGCCTCTTCA
Wildtype AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHGIRT GLFTPDLAFE ATVKKQVQKL
KEPSIKCVDM VVSELTATIR KCSEKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
PGVPSRSGQA SPSRPESPRP PFDL*
Mutated AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHDIRT GLFTPDLAFE ATVKKQVQKL
KEPSIKCVDM VVSELTATIR KCSEKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
PGVPSRSGQA SPSRPESPRP PFDL*
Position of stopcodon in wt / mu CDS 2595 / 2595
Position (AA) of stopcodon in wt / mu AA sequence 865 / 865
Position of stopcodon in wt / mu cDNA 2651 / 2651
Position of start ATG in wt / mu cDNA 57 / 57
Last intron/exon boundary 2590
Theoretical NMD boundary in CDS 2483
Length of CDS 2595
Coding sequence (CDS) position 1190
cDNA position 1246
gDNA position 31200
Chromosomal position 128222854
Speed 0.38 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
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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Yum, tasty mutations...

MutationT@ster 2025

Variant:

9:128222854G>A_1_ENST00000475805

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Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 100|0 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr9:128222854G>A (GRCh38)
Gene symbol DNM1
Gene constraints LOEUF: 0.38, LOF (oe): 0.26, misssense (oe): 0.56, synonymous (oe): 1.03 ? (gnomAD)
Ensembl transcript ID ENST00000475805.5
Genbank transcript ID
UniProt / AlphaMissense peptide DYN1_HUMAN | AlphaMissense: transcript, gene
Variant type Single base exchange
Gene region CDS
DNA changes c.1190G>A
g.31200G>A
AA changes
AAE:G397D?
Score:94
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Inborn genetic diseasespathogenicClinVar
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      397REISYAIKNIHGIRTGLFTPDLAF
mutated  not conserved    397REISYAIKNIHDIRTGLFTPDLA
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
Protein features
Start (aa)End (aa)FeatureDetails 
1864CHAINlost
Phylogenetic conservation
PhyloPPhastCons
(flanking)10.0031
10.0031
(flanking)0.8851
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 7
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 9
Strand 1
Original gDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGC
Altered gDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGGCACGTATTGGGGC
Original cDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGGACGGGCCTCTTCA
Altered cDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGGACGGGCCTCTTCA
Wildtype AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHGIRT GLFTPDLAFE ATVKKQVQKL
KEPSIKCVDM VVSELTATIR KCSEKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
PGVPRITISD P*
Mutated AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHDIRT GLFTPDLAFE ATVKKQVQKL
KEPSIKCVDM VVSELTATIR KCSEKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
PGVPRITISD P*
Position of stopcodon in wt / mu CDS 2556 / 2556
Position (AA) of stopcodon in wt / mu AA sequence 852 / 852
Position of stopcodon in wt / mu cDNA 2648 / 2648
Position of start ATG in wt / mu cDNA 93 / 93
Last intron/exon boundary 2663
Theoretical NMD boundary in CDS 2520
Length of CDS 2556
Coding sequence (CDS) position 1190
cDNA position 1282
gDNA position 31200
Chromosomal position 128222854
Speed 0.13 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
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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Yum, tasty mutations...

MutationT@ster 2025

Variant:

9:128222854G>A_5_ENST00000706053

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 100|0 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr9:128222854G>A (GRCh38)
Gene symbol DNM1
Gene constraints no data
Ensembl transcript ID ENST00000706053.1
Genbank transcript ID NM_001374269 (by similarity)
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region CDS
DNA changes c.1190G>A
g.31200G>A
AA changes
AAE:G397D?
Score:94
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Inborn genetic diseasespathogenicClinVar
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      397REISYAIKNIHGIRTGLFTPDMAF
mutated  not conserved    397REISYAIKNIHDIRTGLFTPDMA
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)10.0031
10.0031
(flanking)0.8851
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 7
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 9
Strand 1
Original gDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGC
Altered gDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGGCACGTATTGGGGC
Original cDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGAACGGGGCTGTTTA
Altered cDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGAACGGGGCTGTTTA
Wildtype AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHGIRT GLFTPDMAFE TIVKKQVKKI
REPCLKCVDM VISELISTVR QCTKKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
PGVPRKGPAS PTRPAAPRPA EAPLLDL*
Mutated AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHDIRT GLFTPDMAFE TIVKKQVKKI
REPCLKCVDM VISELISTVR QCTKKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
PGVPRKGPAS PTRPAAPRPA EAPLLDL*
Position of stopcodon in wt / mu CDS 2604 / 2604
Position (AA) of stopcodon in wt / mu AA sequence 868 / 868
Position of stopcodon in wt / mu cDNA 2658 / 2658
Position of start ATG in wt / mu cDNA 55 / 55
Last intron/exon boundary 2588
Theoretical NMD boundary in CDS 2483
Length of CDS 2604
Coding sequence (CDS) position 1190
cDNA position 1244
gDNA position 31200
Chromosomal position 128222854
Speed 0.37 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table
Yum, tasty mutations...

MutationT@ster 2025

Variant:

9:128222854G>A_4_ENST00000393594

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 100|0 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr9:128222854G>A (GRCh38)
Gene symbol DNM1
Gene constraints LOEUF: 0.38, LOF (oe): 0.26, misssense (oe): 0.56, synonymous (oe): 1.03 ? (gnomAD)
Ensembl transcript ID ENST00000393594.7
Genbank transcript ID NM_001288738 (by similarity), NM_001288737 (by similarity)
UniProt / AlphaMissense peptide DYN1_HUMAN | AlphaMissense: transcript, gene
Variant type Single base exchange
Gene region CDS
DNA changes c.1190G>A
g.31200G>A
AA changes
AAE:G397D?
Score:94
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Inborn genetic diseasespathogenicClinVar
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      397REISYAIKNIHGIRTGLFTPDLAF
mutated  not conserved    397REISYAIKNIHDIRTGLFTPDLA
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
Protein features
Start (aa)End (aa)FeatureDetails 
1864CHAINlost
Phylogenetic conservation
PhyloPPhastCons
(flanking)10.0031
10.0031
(flanking)0.8851
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 7
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 9
Strand 1
Original gDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGC
Altered gDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGGCACGTATTGGGGC
Original cDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGGACGGGCCTCTTCA
Altered cDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGGACGGGCCTCTTCA
Wildtype AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHGIRT GLFTPDLAFE ATVKKQVQKL
KEPSIKCVDM VVSELTATIR KCSEKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
PGVPRITISD P*
Mutated AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHDIRT GLFTPDLAFE ATVKKQVQKL
KEPSIKCVDM VVSELTATIR KCSEKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
PGVPRITISD P*
Position of stopcodon in wt / mu CDS 2556 / 2556
Position (AA) of stopcodon in wt / mu AA sequence 852 / 852
Position of stopcodon in wt / mu cDNA 2639 / 2639
Position of start ATG in wt / mu cDNA 84 / 84
Last intron/exon boundary 2654
Theoretical NMD boundary in CDS 2520
Length of CDS 2556
Coding sequence (CDS) position 1190
cDNA position 1273
gDNA position 31200
Chromosomal position 128222854
Speed 0.12 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table
Yum, tasty mutations...

MutationT@ster 2025

Variant:

9:128222854G>A_7_ENST00000634267

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 100|0 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr9:128222854G>A (GRCh38)
Gene symbol DNM1
Gene constraints LOEUF: 0.41, LOF (oe): 0.29, misssense (oe): 0.56, synonymous (oe): 1.01 ? (gnomAD)
Ensembl transcript ID ENST00000634267.2
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region CDS
DNA changes c.1190G>A
g.31200G>A
AA changes
AAE:G397D?
Score:94
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Inborn genetic diseasespathogenicClinVar
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      397REISYAIKNIHGIRTGLFTPDMAF
mutated  not conserved    397REISYAIKNIHDIRTGLFTPDMA
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)10.0031
10.0031
(flanking)0.8851
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 7
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 9
Strand 1
Original gDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGC
Altered gDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGGCACGTATTGGGGC
Original cDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGAACGGGGCTGTTTA
Altered cDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGAACGGGGCTGTTTA
Wildtype AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHGIRT GLFTPDMAFE TIVKKQVKKI
REPCLKCVDM VISELISTVR QCTKKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
PGVPSQPIGS GKSIPS*
Mutated AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHDIRT GLFTPDMAFE TIVKKQVKKI
REPCLKCVDM VISELISTVR QCTKKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
PGVPSQPIGS GKSIPS*
Position of stopcodon in wt / mu CDS 2571 / 2571
Position (AA) of stopcodon in wt / mu AA sequence 857 / 857
Position of stopcodon in wt / mu cDNA 2571 / 2571
Position of start ATG in wt / mu cDNA 1 / 1
Last intron/exon boundary 2534
Theoretical NMD boundary in CDS 2483
Length of CDS 2571
Coding sequence (CDS) position 1190
cDNA position 1190
gDNA position 31200
Chromosomal position 128222854
Speed 0.34 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
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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Yum, tasty mutations...

MutationT@ster 2025

Variant:

9:128222854G>A_8_ENST00000627061

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Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 100|0 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr9:128222854G>A (GRCh38)
Gene symbol DNM1
Gene constraints LOEUF: 0.39, LOF (oe): 0.28, misssense (oe): 0.57, synonymous (oe): 1.02 ? (gnomAD)
Ensembl transcript ID ENST00000627061.2
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region CDS
DNA changes c.1190G>A
g.31200G>A
AA changes
AAE:G397D?
Score:94
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Inborn genetic diseasespathogenicClinVar
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      397REISYAIKNIHGIRTGLFTPDLAF
mutated  not conserved    397REISYAIKNIHDIRTGLFTPDLA
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)10.0031
10.0031
(flanking)0.8851
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 7
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 9
Strand 1
Original gDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGC
Altered gDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGGCACGTATTGGGGC
Original cDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGGACGGGCCTCTTCA
Altered cDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGGACGGGCCTCTTCA
Wildtype AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHGIRT GLFTPDLAFE ATVKKQLQQY
PRLREEMERI VTTHIREREG RTKEQVMLLI DIELAYMNTN HEDFIGFANA QQRSNQMNKK
KTSGNQDEIL VIRKGWLTIN NIGIMKGGSK EYWFVLTAEN LSWYKDDEEK EKKYMLSVDN
LKLRDVEKGF MSSKHIFALF NTEQRNVYKD YRQLELACET QEEVDSWKAS FLRAGVYPER
VGDKEKASET EENGSDSFMH SMDPQLERQV ETIRNLVDSY MAIVNKTVRD LMPKTIMHLM
INNTKEFIFS ELLANLYSCG DQNTLMEESA EQAQRRDEML RMYHALKEAL SIIGDINTTT
VSTPMPPPVD DSWLQVQSVP AGRRSPTSSP TPQRRAPAVP PARPGSRGPA PGPPPAGSAL
GGAPPVPSRP GASPDPFGPP PQVPSRPNRA PPGVPSRSGQ ASPSRPESPR PPFDL*
Mutated AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHDIRT GLFTPDLAFE ATVKKQLQQY
PRLREEMERI VTTHIREREG RTKEQVMLLI DIELAYMNTN HEDFIGFANA QQRSNQMNKK
KTSGNQDEIL VIRKGWLTIN NIGIMKGGSK EYWFVLTAEN LSWYKDDEEK EKKYMLSVDN
LKLRDVEKGF MSSKHIFALF NTEQRNVYKD YRQLELACET QEEVDSWKAS FLRAGVYPER
VGDKEKASET EENGSDSFMH SMDPQLERQV ETIRNLVDSY MAIVNKTVRD LMPKTIMHLM
INNTKEFIFS ELLANLYSCG DQNTLMEESA EQAQRRDEML RMYHALKEAL SIIGDINTTT
VSTPMPPPVD DSWLQVQSVP AGRRSPTSSP TPQRRAPAVP PARPGSRGPA PGPPPAGSAL
GGAPPVPSRP GASPDPFGPP PQVPSRPNRA PPGVPSRSGQ ASPSRPESPR PPFDL*
Position of stopcodon in wt / mu CDS 2508 / 2508
Position (AA) of stopcodon in wt / mu AA sequence 836 / 836
Position of stopcodon in wt / mu cDNA 2562 / 2562
Position of start ATG in wt / mu cDNA 55 / 55
Last intron/exon boundary 2501
Theoretical NMD boundary in CDS 2396
Length of CDS 2508
Coding sequence (CDS) position 1190
cDNA position 1244
gDNA position 31200
Chromosomal position 128222854
Speed 0.35 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table
Yum, tasty mutations...

MutationT@ster 2025

Variant:

9:128222854G>A_10_ENST00000628346

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 100|0 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr9:128222854G>A (GRCh38)
Gene symbol DNM1
Gene constraints LOEUF: 0.39, LOF (oe): 0.28, misssense (oe): 0.58, synonymous (oe): 1.00 ? (gnomAD)
Ensembl transcript ID ENST00000628346.2
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region CDS
DNA changes c.1190G>A
g.31200G>A
AA changes
AAE:G397D?
Score:94
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Inborn genetic diseasespathogenicClinVar
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      397REISYAIKNIHGIRTGLFTPDMAF
mutated  not conserved    397REISYAIKNIHDIRTGLFTPDMA
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)10.0031
10.0031
(flanking)0.8851
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 7
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 9
Strand 1
Original gDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGGCACGTATTGGGGC
Altered gDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGGCACGTATTGGGGC
Original cDNA sequence snippet TGCTATCAAGAATATCCATGGCATTAGAACGGGGCTGTTTA
Altered cDNA sequence snippet TGCTATCAAGAATATCCATGACATTAGAACGGGGCTGTTTA
Wildtype AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHGIRT GLFTPDMAFE TIVKKQVKKI
REPCLKCVDM VISELISTVR QCTKKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQVIRKG WLTINNIGIM KGGSKEYWFV
LTAENLSWYK DDEEKEKKYM LSVDNLKLRD VEKGFMSSKH IFALFNTEQR NVYKDYRQLE
LACETQEEVD SWKASFLRAG VYPERVGDKE KASETEENGS DSFMHSMDPQ LERQVETIRN
LVDSYMAIVN KTVRDLMPKT IMHLMINNTK EFIFSELLAN LYSCGDQNTL MEESAEQAQR
RDEMLRMYHA LKEALSIIGD INTTTVSTPM PPPVDDSWLQ VQSVPAGRRS PTSSPTPQRR
APAVPPARPG SRGPAPGPPP AGSALGGAPP VPSRPGASPD PFGPPPQVPS RPNRAPPGVP
SRKGPASPTR PAAPRPAEAP LLDL*
Mutated AA sequence MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHDIRT GLFTPDMAFE TIVKKQVKKI
REPCLKCVDM VISELISTVR QCTKKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQVIRKG WLTINNIGIM KGGSKEYWFV
LTAENLSWYK DDEEKEKKYM LSVDNLKLRD VEKGFMSSKH IFALFNTEQR NVYKDYRQLE
LACETQEEVD SWKASFLRAG VYPERVGDKE KASETEENGS DSFMHSMDPQ LERQVETIRN
LVDSYMAIVN KTVRDLMPKT IMHLMINNTK EFIFSELLAN LYSCGDQNTL MEESAEQAQR
RDEMLRMYHA LKEALSIIGD INTTTVSTPM PPPVDDSWLQ VQSVPAGRRS PTSSPTPQRR
APAVPPARPG SRGPAPGPPP AGSALGGAPP VPSRPGASPD PFGPPPQVPS RPNRAPPGVP
SRKGPASPTR PAAPRPAEAP LLDL*
Position of stopcodon in wt / mu CDS 2595 / 2595
Position (AA) of stopcodon in wt / mu AA sequence 865 / 865
Position of stopcodon in wt / mu cDNA 2669 / 2669
Position of start ATG in wt / mu cDNA 75 / 75
Last intron/exon boundary 2596
Theoretical NMD boundary in CDS 2471
Length of CDS 2595
Coding sequence (CDS) position 1190
cDNA position 1264
gDNA position 31200
Chromosomal position 128222854
Speed 0.37 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table