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: ENST00000287908
Querying Taster for transcript #2: ENST00000394626
Querying Taster for transcript #3: ENST00000394622
Querying Taster for transcript #4: ENST00000394632
Querying Taster for transcript #5: ENST00000394624
Querying Taster for transcript #6: ENST00000402625
Querying Taster for transcript #7: ENST00000394629
Querying Taster for transcript #8: ENST00000394621
MT speed 9.69 s - this script 9.123632 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
STEAP2polymorphism_automatic0.280215388305679simple_aaeaffectedR456Qsingle base exchangers194524show file
STEAP2polymorphism_automatic0.280215388305679simple_aaeaffectedR456Qsingle base exchangers194524show file
STEAP2polymorphism_automatic0.280215388305679simple_aaeaffectedR456Qsingle base exchangers194524show file
STEAP2polymorphism_automatic0.999999998627064without_aaeaffectedsingle base exchangers194524show file
STEAP2polymorphism_automatic0.999999998627064without_aaeaffectedsingle base exchangers194524show file
STEAP2polymorphism_automatic0.999999998627064without_aaeaffectedsingle base exchangers194524show file
STEAP2polymorphism_automatic0.999999998627064without_aaeaffectedsingle base exchangers194524show file
STEAP2polymorphism_automatic0.999999998627064without_aaeaffectedsingle base exchangers194524show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.719784611694321 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:89861832G>AN/A show variant in all transcripts   IGV
HGNC symbol STEAP2
Ensembl transcript ID ENST00000287908
Genbank transcript ID NM_001244944
UniProt peptide Q8NFT2
alteration type single base exchange
alteration region CDS
DNA changes c.1367G>A
cDNA.1760G>A
g.64929G>A
AA changes R456Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS
456
frameshift no
known variant Reference ID: rs194524
databasehomozygous (A/A)heterozygousallele carriers
1000G30910341343
ExAC13918493118849
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0070.986
1.3110.994
(flanking)0.4950.995
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 increased64920wt: 0.2536 / mu: 0.2552 (marginal change - not scored)wt: GATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAAC
mu: GATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAAC
 catg|TATA
Acc marginally increased64921wt: 0.9895 / mu: 0.9897 (marginal change - not scored)wt: ATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAACG
mu: ATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAACG
 atgt|ATAA
Donor marginally increased64932wt: 0.9817 / mu: 0.9865 (marginal change - not scored)wt: CCGAAAGCTAAAACG
mu: CCAAAAGCTAAAACG
 GAAA|gcta
Donor marginally increased64926wt: 0.3947 / mu: 0.4315 (marginal change - not scored)wt: TATAAGCCGAAAGCT
mu: TATAAGCCAAAAGCT
 TAAG|ccga
Donor marginally increased64927wt: 0.9557 / mu: 0.9696 (marginal change - not scored)wt: ATAAGCCGAAAGCTA
mu: ATAAGCCAAAAGCTA
 AAGC|cgaa
Donor increased64933wt: 0.53 / mu: 0.69wt: CGAAAGCTAAAACGA
mu: CAAAAGCTAAAACGA
 AAAG|ctaa
Donor increased64925wt: 0.81 / mu: 0.99wt: GTATAAGCCGAAAGC
mu: GTATAAGCCAAAAGC
 ATAA|gccg
distance from splice site 182
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      456GKIILFLPCISRKLKRIKKGWEKS
mutated  all conserved    456GKIILFLPCISQKLKRIKKGWEK
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000015653  455GKMILLLPCISRKLKRIKKGWEK
Ggallus  all identical  ENSGALG00000009017  456GKIIFLLPCVSRKLRRIRRGWEK
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000062887  459GKIVLLLPCVSRKLKRIRRGLDS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000027669  455GKVILLCPCVSKRLRGIKRGREK
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1473 / 1473
position (AA) of stopcodon in wt / mu AA sequence 491 / 491
position of stopcodon in wt / mu cDNA 1866 / 1866
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 394 / 394
chromosome 7
strand 1
last intron/exon boundary 1579
theoretical NMD boundary in CDS 1135
length of CDS 1473
coding sequence (CDS) position 1367
cDNA position
(for ins/del: last normal base / first normal base)
1760
gDNA position
(for ins/del: last normal base / first normal base)
64929
chromosomal position
(for ins/del: last normal base / first normal base)
89861832
original gDNA sequence snippet ATTCCTTCCATGTATAAGCCGAAAGCTAAAACGAATTAAAA
altered gDNA sequence snippet ATTCCTTCCATGTATAAGCCAAAAGCTAAAACGAATTAAAA
original cDNA sequence snippet ATTCCTTCCATGTATAAGCCGAAAGCTAAAACGAATTAAAA
altered cDNA sequence snippet ATTCCTTCCATGTATAAGCCAAAAGCTAAAACGAATTAAAA
wildtype AA sequence MESISMMGSP KSLSETFLPN GINGIKDARK VTVGVIGSGD FAKSLTIRLI RCGYHVVIGS
RNPKFASEFF PHVVDVTHHE DALTKTNIIF VAIHREHYTS LWDLRHLLVG KILIDVSNNM
RINQYPESNA EYLASLFPDS LIVKGFNVVS AWALQLGPKD ASRQVYICSN NIQARQQVIE
LARQLNFIPI DLGSLSSARE IENLPLRLFT LWRGPVVVAI SLATFFFLYS FVRDVIHPYA
RNQQSDFYKI PIEIVNKTLP IVAITLLSLV YLAGLLAAAY QLYYGTKYRR FPPWLETWLQ
CRKQLGLLSF FFAMVHVAYS LCLPMRRSER YLFLNMAYQQ VHANIENSWN EEEVWRIEMY
ISFGIMSLGL LSLLAVTSIP SVSNALNWRE FSFIQSTLGY VALLISTFHV LIYGWKRAFE
EEYYRFYTPP NFVLALVLPS IVILGKIILF LPCISRKLKR IKKGWEKSQF LEEGMGGTIP
HVSPERVTVM *
mutated AA sequence MESISMMGSP KSLSETFLPN GINGIKDARK VTVGVIGSGD FAKSLTIRLI RCGYHVVIGS
RNPKFASEFF PHVVDVTHHE DALTKTNIIF VAIHREHYTS LWDLRHLLVG KILIDVSNNM
RINQYPESNA EYLASLFPDS LIVKGFNVVS AWALQLGPKD ASRQVYICSN NIQARQQVIE
LARQLNFIPI DLGSLSSARE IENLPLRLFT LWRGPVVVAI SLATFFFLYS FVRDVIHPYA
RNQQSDFYKI PIEIVNKTLP IVAITLLSLV YLAGLLAAAY QLYYGTKYRR FPPWLETWLQ
CRKQLGLLSF FFAMVHVAYS LCLPMRRSER YLFLNMAYQQ VHANIENSWN EEEVWRIEMY
ISFGIMSLGL LSLLAVTSIP SVSNALNWRE FSFIQSTLGY VALLISTFHV LIYGWKRAFE
EEYYRFYTPP NFVLALVLPS IVILGKIILF LPCISQKLKR IKKGWEKSQF LEEGMGGTIP
HVSPERVTVM *
speed 1.46 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.719784611694321 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:89861832G>AN/A show variant in all transcripts   IGV
HGNC symbol STEAP2
Ensembl transcript ID ENST00000394622
Genbank transcript ID NM_001040665
UniProt peptide Q8NFT2
alteration type single base exchange
alteration region CDS
DNA changes c.1367G>A
cDNA.1536G>A
g.64929G>A
AA changes R456Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS
456
frameshift no
known variant Reference ID: rs194524
databasehomozygous (A/A)heterozygousallele carriers
1000G30910341343
ExAC13918493118849
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0070.986
1.3110.994
(flanking)0.4950.995
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 increased64920wt: 0.2536 / mu: 0.2552 (marginal change - not scored)wt: GATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAAC
mu: GATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAAC
 catg|TATA
Acc marginally increased64921wt: 0.9895 / mu: 0.9897 (marginal change - not scored)wt: ATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAACG
mu: ATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAACG
 atgt|ATAA
Donor marginally increased64932wt: 0.9817 / mu: 0.9865 (marginal change - not scored)wt: CCGAAAGCTAAAACG
mu: CCAAAAGCTAAAACG
 GAAA|gcta
Donor marginally increased64926wt: 0.3947 / mu: 0.4315 (marginal change - not scored)wt: TATAAGCCGAAAGCT
mu: TATAAGCCAAAAGCT
 TAAG|ccga
Donor marginally increased64927wt: 0.9557 / mu: 0.9696 (marginal change - not scored)wt: ATAAGCCGAAAGCTA
mu: ATAAGCCAAAAGCTA
 AAGC|cgaa
Donor increased64933wt: 0.53 / mu: 0.69wt: CGAAAGCTAAAACGA
mu: CAAAAGCTAAAACGA
 AAAG|ctaa
Donor increased64925wt: 0.81 / mu: 0.99wt: GTATAAGCCGAAAGC
mu: GTATAAGCCAAAAGC
 ATAA|gccg
distance from splice site 182
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      456GKIILFLPCISRKLKRIKKGWEKS
mutated  all conserved    456GKIILFLPCISQKLKRIKKGWEK
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000015653  455GKMILLLPCISRKLKRIKKGWEK
Ggallus  all identical  ENSGALG00000009017  456GKIIFLLPCVSRKLRRIRRGWEK
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000062887  459GKIVLLLPCVSRKLKRIRRGLDS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000027669  455GKVILLCPCVSKRLRGIKRGREK
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1473 / 1473
position (AA) of stopcodon in wt / mu AA sequence 491 / 491
position of stopcodon in wt / mu cDNA 1642 / 1642
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 170 / 170
chromosome 7
strand 1
last intron/exon boundary 1355
theoretical NMD boundary in CDS 1135
length of CDS 1473
coding sequence (CDS) position 1367
cDNA position
(for ins/del: last normal base / first normal base)
1536
gDNA position
(for ins/del: last normal base / first normal base)
64929
chromosomal position
(for ins/del: last normal base / first normal base)
89861832
original gDNA sequence snippet ATTCCTTCCATGTATAAGCCGAAAGCTAAAACGAATTAAAA
altered gDNA sequence snippet ATTCCTTCCATGTATAAGCCAAAAGCTAAAACGAATTAAAA
original cDNA sequence snippet ATTCCTTCCATGTATAAGCCGAAAGCTAAAACGAATTAAAA
altered cDNA sequence snippet ATTCCTTCCATGTATAAGCCAAAAGCTAAAACGAATTAAAA
wildtype AA sequence MESISMMGSP KSLSETFLPN GINGIKDARK VTVGVIGSGD FAKSLTIRLI RCGYHVVIGS
RNPKFASEFF PHVVDVTHHE DALTKTNIIF VAIHREHYTS LWDLRHLLVG KILIDVSNNM
RINQYPESNA EYLASLFPDS LIVKGFNVVS AWALQLGPKD ASRQVYICSN NIQARQQVIE
LARQLNFIPI DLGSLSSARE IENLPLRLFT LWRGPVVVAI SLATFFFLYS FVRDVIHPYA
RNQQSDFYKI PIEIVNKTLP IVAITLLSLV YLAGLLAAAY QLYYGTKYRR FPPWLETWLQ
CRKQLGLLSF FFAMVHVAYS LCLPMRRSER YLFLNMAYQQ VHANIENSWN EEEVWRIEMY
ISFGIMSLGL LSLLAVTSIP SVSNALNWRE FSFIQSTLGY VALLISTFHV LIYGWKRAFE
EEYYRFYTPP NFVLALVLPS IVILGKIILF LPCISRKLKR IKKGWEKSQF LEEGMGGTIP
HVSPERVTVM *
mutated AA sequence MESISMMGSP KSLSETFLPN GINGIKDARK VTVGVIGSGD FAKSLTIRLI RCGYHVVIGS
RNPKFASEFF PHVVDVTHHE DALTKTNIIF VAIHREHYTS LWDLRHLLVG KILIDVSNNM
RINQYPESNA EYLASLFPDS LIVKGFNVVS AWALQLGPKD ASRQVYICSN NIQARQQVIE
LARQLNFIPI DLGSLSSARE IENLPLRLFT LWRGPVVVAI SLATFFFLYS FVRDVIHPYA
RNQQSDFYKI PIEIVNKTLP IVAITLLSLV YLAGLLAAAY QLYYGTKYRR FPPWLETWLQ
CRKQLGLLSF FFAMVHVAYS LCLPMRRSER YLFLNMAYQQ VHANIENSWN EEEVWRIEMY
ISFGIMSLGL LSLLAVTSIP SVSNALNWRE FSFIQSTLGY VALLISTFHV LIYGWKRAFE
EEYYRFYTPP NFVLALVLPS IVILGKIILF LPCISQKLKR IKKGWEKSQF LEEGMGGTIP
HVSPERVTVM *
speed 1.47 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.719784611694321 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:89861832G>AN/A show variant in all transcripts   IGV
HGNC symbol STEAP2
Ensembl transcript ID ENST00000394621
Genbank transcript ID N/A
UniProt peptide Q8NFT2
alteration type single base exchange
alteration region CDS
DNA changes c.1367G>A
cDNA.1673G>A
g.64929G>A
AA changes R456Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS
456
frameshift no
known variant Reference ID: rs194524
databasehomozygous (A/A)heterozygousallele carriers
1000G30910341343
ExAC13918493118849
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0070.986
1.3110.994
(flanking)0.4950.995
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 increased64920wt: 0.2536 / mu: 0.2552 (marginal change - not scored)wt: GATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAAC
mu: GATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAAC
 catg|TATA
Acc marginally increased64921wt: 0.9895 / mu: 0.9897 (marginal change - not scored)wt: ATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAACG
mu: ATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAACG
 atgt|ATAA
Donor marginally increased64932wt: 0.9817 / mu: 0.9865 (marginal change - not scored)wt: CCGAAAGCTAAAACG
mu: CCAAAAGCTAAAACG
 GAAA|gcta
Donor marginally increased64926wt: 0.3947 / mu: 0.4315 (marginal change - not scored)wt: TATAAGCCGAAAGCT
mu: TATAAGCCAAAAGCT
 TAAG|ccga
Donor marginally increased64927wt: 0.9557 / mu: 0.9696 (marginal change - not scored)wt: ATAAGCCGAAAGCTA
mu: ATAAGCCAAAAGCTA
 AAGC|cgaa
Donor increased64933wt: 0.53 / mu: 0.69wt: CGAAAGCTAAAACGA
mu: CAAAAGCTAAAACGA
 AAAG|ctaa
Donor increased64925wt: 0.81 / mu: 0.99wt: GTATAAGCCGAAAGC
mu: GTATAAGCCAAAAGC
 ATAA|gccg
distance from splice site 107
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      456GKIILFLPCISRKLKRIKKGWEKS
mutated  all conserved    456GKIILFLPCISQKLKRIKKGWEK
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000015653  455GKMILLLPCISRKLKRIKKGWEK
Ggallus  all identical  ENSGALG00000009017  456GKIIFLLPCVSRKLRRIRRGWEK
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000062887  459GKIVLLLPCVSRKLKRIRRGLDS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000027669  455GKVILLCPCVSKRLRGIKRGREK
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1473 / 1473
position (AA) of stopcodon in wt / mu AA sequence 491 / 491
position of stopcodon in wt / mu cDNA 1779 / 1779
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 307 / 307
chromosome 7
strand 1
last intron/exon boundary 1492
theoretical NMD boundary in CDS 1135
length of CDS 1473
coding sequence (CDS) position 1367
cDNA position
(for ins/del: last normal base / first normal base)
1673
gDNA position
(for ins/del: last normal base / first normal base)
64929
chromosomal position
(for ins/del: last normal base / first normal base)
89861832
original gDNA sequence snippet ATTCCTTCCATGTATAAGCCGAAAGCTAAAACGAATTAAAA
altered gDNA sequence snippet ATTCCTTCCATGTATAAGCCAAAAGCTAAAACGAATTAAAA
original cDNA sequence snippet ATTCCTTCCATGTATAAGCCGAAAGCTAAAACGAATTAAAA
altered cDNA sequence snippet ATTCCTTCCATGTATAAGCCAAAAGCTAAAACGAATTAAAA
wildtype AA sequence MESISMMGSP KSLSETFLPN GINGIKDARK VTVGVIGSGD FAKSLTIRLI RCGYHVVIGS
RNPKFASEFF PHVVDVTHHE DALTKTNIIF VAIHREHYTS LWDLRHLLVG KILIDVSNNM
RINQYPESNA EYLASLFPDS LIVKGFNVVS AWALQLGPKD ASRQVYICSN NIQARQQVIE
LARQLNFIPI DLGSLSSARE IENLPLRLFT LWRGPVVVAI SLATFFFLYS FVRDVIHPYA
RNQQSDFYKI PIEIVNKTLP IVAITLLSLV YLAGLLAAAY QLYYGTKYRR FPPWLETWLQ
CRKQLGLLSF FFAMVHVAYS LCLPMRRSER YLFLNMAYQQ VHANIENSWN EEEVWRIEMY
ISFGIMSLGL LSLLAVTSIP SVSNALNWRE FSFIQSTLGY VALLISTFHV LIYGWKRAFE
EEYYRFYTPP NFVLALVLPS IVILGKIILF LPCISRKLKR IKKGWEKSQF LEEGMGGTIP
HVSPERVTVM *
mutated AA sequence MESISMMGSP KSLSETFLPN GINGIKDARK VTVGVIGSGD FAKSLTIRLI RCGYHVVIGS
RNPKFASEFF PHVVDVTHHE DALTKTNIIF VAIHREHYTS LWDLRHLLVG KILIDVSNNM
RINQYPESNA EYLASLFPDS LIVKGFNVVS AWALQLGPKD ASRQVYICSN NIQARQQVIE
LARQLNFIPI DLGSLSSARE IENLPLRLFT LWRGPVVVAI SLATFFFLYS FVRDVIHPYA
RNQQSDFYKI PIEIVNKTLP IVAITLLSLV YLAGLLAAAY QLYYGTKYRR FPPWLETWLQ
CRKQLGLLSF FFAMVHVAYS LCLPMRRSER YLFLNMAYQQ VHANIENSWN EEEVWRIEMY
ISFGIMSLGL LSLLAVTSIP SVSNALNWRE FSFIQSTLGY VALLISTFHV LIYGWKRAFE
EEYYRFYTPP NFVLALVLPS IVILGKIILF LPCISQKLKR IKKGWEKSQF LEEGMGGTIP
HVSPERVTVM *
speed 1.32 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 1.37293620422568e-09 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:89861832G>AN/A show variant in all transcripts   IGV
HGNC symbol STEAP2
Ensembl transcript ID ENST00000394626
Genbank transcript ID NM_001244945
UniProt peptide Q8NFT2
alteration type single base exchange
alteration region intron
DNA changes g.64929G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs194524
databasehomozygous (A/A)heterozygousallele carriers
1000G30910341343
ExAC13918493118849
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0070.986
1.3110.994
(flanking)0.4950.995
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 increased64920wt: 0.2536 / mu: 0.2552 (marginal change - not scored)wt: GATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAAC
mu: GATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAAC
 catg|TATA
Acc marginally increased64921wt: 0.9895 / mu: 0.9897 (marginal change - not scored)wt: ATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAACG
mu: ATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAACG
 atgt|ATAA
Donor marginally increased64932wt: 0.9817 / mu: 0.9865 (marginal change - not scored)wt: CCGAAAGCTAAAACG
mu: CCAAAAGCTAAAACG
 GAAA|gcta
Donor marginally increased64926wt: 0.3947 / mu: 0.4315 (marginal change - not scored)wt: TATAAGCCGAAAGCT
mu: TATAAGCCAAAAGCT
 TAAG|ccga
Donor marginally increased64927wt: 0.9557 / mu: 0.9696 (marginal change - not scored)wt: ATAAGCCGAAAGCTA
mu: ATAAGCCAAAAGCTA
 AAGC|cgaa
Donor increased64933wt: 0.53 / mu: 0.69wt: CGAAAGCTAAAACGA
mu: CAAAAGCTAAAACGA
 AAAG|ctaa
Donor increased64925wt: 0.81 / mu: 0.99wt: GTATAAGCCGAAAGC
mu: GTATAAGCCAAAAGC
 ATAA|gccg
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features
start (aa)end (aa)featuredetails 
432452TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
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 336 / 336
chromosome 7
strand 1
last intron/exon boundary 1669
theoretical NMD boundary in CDS 1283
length of CDS 1365
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)
64929
chromosomal position
(for ins/del: last normal base / first normal base)
89861832
original gDNA sequence snippet ATTCCTTCCATGTATAAGCCGAAAGCTAAAACGAATTAAAA
altered gDNA sequence snippet ATTCCTTCCATGTATAAGCCAAAAGCTAAAACGAATTAAAA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MESISMMGSP KSLSETFLPN GINGIKDARK VTVGVIGSGD FAKSLTIRLI RCGYHVVIGS
RNPKFASEFF PHVVDVTHHE DALTKTNIIF VAIHREHYTS LWDLRHLLVG KILIDVSNNM
RINQYPESNA EYLASLFPDS LIVKGFNVVS AWALQLGPKD ASRQVYICSN NIQARQQVIE
LARQLNFIPI DLGSLSSARE IENLPLRLFT LWRGPVVVAI SLATFFFLYS FVRDVIHPYA
RNQQSDFYKI PIEIVNKTLP IVAITLLSLV YLAGLLAAAY QLYYGTKYRR FPPWLETWLQ
CRKQLGLLSF FFAMVHVAYS LCLPMRRSER YLFLNMAYQQ VHANIENSWN EEEVWRIEMY
ISFGIMSLGL LSLLAVTSIP SVSNALNWRE FSFIQSTLGY VALLISTFHV LIYGWKRAFE
EEYYRFYTPP NFVLALVLPS IVILDLLQLC RYPD*
mutated AA sequence N/A
speed 1.24 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

polymorphism

Model: without_aae, prob: 1.37293620422568e-09 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:89861832G>AN/A show variant in all transcripts   IGV
HGNC symbol STEAP2
Ensembl transcript ID ENST00000394624
Genbank transcript ID N/A
UniProt peptide Q8NFT2
alteration type single base exchange
alteration region intron
DNA changes g.64929G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs194524
databasehomozygous (A/A)heterozygousallele carriers
1000G30910341343
ExAC13918493118849
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0070.986
1.3110.994
(flanking)0.4950.995
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 increased64920wt: 0.2536 / mu: 0.2552 (marginal change - not scored)wt: GATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAAC
mu: GATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAAC
 catg|TATA
Acc marginally increased64921wt: 0.9895 / mu: 0.9897 (marginal change - not scored)wt: ATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAACG
mu: ATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAACG
 atgt|ATAA
Donor marginally increased64932wt: 0.9817 / mu: 0.9865 (marginal change - not scored)wt: CCGAAAGCTAAAACG
mu: CCAAAAGCTAAAACG
 GAAA|gcta
Donor marginally increased64926wt: 0.3947 / mu: 0.4315 (marginal change - not scored)wt: TATAAGCCGAAAGCT
mu: TATAAGCCAAAAGCT
 TAAG|ccga
Donor marginally increased64927wt: 0.9557 / mu: 0.9696 (marginal change - not scored)wt: ATAAGCCGAAAGCTA
mu: ATAAGCCAAAAGCTA
 AAGC|cgaa
Donor increased64933wt: 0.53 / mu: 0.69wt: CGAAAGCTAAAACGA
mu: CAAAAGCTAAAACGA
 AAAG|ctaa
Donor increased64925wt: 0.81 / mu: 0.99wt: GTATAAGCCGAAAGC
mu: GTATAAGCCAAAAGC
 ATAA|gccg
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features
start (aa)end (aa)featuredetails 
432452TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
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 185 / 185
chromosome 7
strand 1
last intron/exon boundary 1518
theoretical NMD boundary in CDS 1283
length of CDS 1365
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)
64929
chromosomal position
(for ins/del: last normal base / first normal base)
89861832
original gDNA sequence snippet ATTCCTTCCATGTATAAGCCGAAAGCTAAAACGAATTAAAA
altered gDNA sequence snippet ATTCCTTCCATGTATAAGCCAAAAGCTAAAACGAATTAAAA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MESISMMGSP KSLSETFLPN GINGIKDARK VTVGVIGSGD FAKSLTIRLI RCGYHVVIGS
RNPKFASEFF PHVVDVTHHE DALTKTNIIF VAIHREHYTS LWDLRHLLVG KILIDVSNNM
RINQYPESNA EYLASLFPDS LIVKGFNVVS AWALQLGPKD ASRQVYICSN NIQARQQVIE
LARQLNFIPI DLGSLSSARE IENLPLRLFT LWRGPVVVAI SLATFFFLYS FVRDVIHPYA
RNQQSDFYKI PIEIVNKTLP IVAITLLSLV YLAGLLAAAY QLYYGTKYRR FPPWLETWLQ
CRKQLGLLSF FFAMVHVAYS LCLPMRRSER YLFLNMAYQQ VHANIENSWN EEEVWRIEMY
ISFGIMSLGL LSLLAVTSIP SVSNALNWRE FSFIQSTLGY VALLISTFHV LIYGWKRAFE
EEYYRFYTPP NFVLALVLPS IVILDLLQLC RYPD*
mutated AA sequence N/A
speed 1.15 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 1.37293620422568e-09 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:89861832G>AN/A show variant in all transcripts   IGV
HGNC symbol STEAP2
Ensembl transcript ID ENST00000394632
Genbank transcript ID NM_001244946
UniProt peptide Q8NFT2
alteration type single base exchange
alteration region intron
DNA changes g.64929G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs194524
databasehomozygous (A/A)heterozygousallele carriers
1000G30910341343
ExAC13918493118849
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0070.986
1.3110.994
(flanking)0.4950.995
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 increased64920wt: 0.2536 / mu: 0.2552 (marginal change - not scored)wt: GATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAAC
mu: GATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAAC
 catg|TATA
Acc marginally increased64921wt: 0.9895 / mu: 0.9897 (marginal change - not scored)wt: ATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAACG
mu: ATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAACG
 atgt|ATAA
Donor marginally increased64932wt: 0.9817 / mu: 0.9865 (marginal change - not scored)wt: CCGAAAGCTAAAACG
mu: CCAAAAGCTAAAACG
 GAAA|gcta
Donor marginally increased64926wt: 0.3947 / mu: 0.4315 (marginal change - not scored)wt: TATAAGCCGAAAGCT
mu: TATAAGCCAAAAGCT
 TAAG|ccga
Donor marginally increased64927wt: 0.9557 / mu: 0.9696 (marginal change - not scored)wt: ATAAGCCGAAAGCTA
mu: ATAAGCCAAAAGCTA
 AAGC|cgaa
Donor increased64933wt: 0.53 / mu: 0.69wt: CGAAAGCTAAAACGA
mu: CAAAAGCTAAAACGA
 AAAG|ctaa
Donor increased64925wt: 0.81 / mu: 0.99wt: GTATAAGCCGAAAGC
mu: GTATAAGCCAAAAGC
 ATAA|gccg
distance from splice site 2482
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features
start (aa)end (aa)featuredetails 
259407DOMAINFerric oxidoreductase.might get lost (downstream of altered splice site)
393413TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
409409METALIron (heme axial ligand) (By similarity).might get lost (downstream of altered splice site)
432452TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
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 170 / 170
chromosome 7
strand 1
last intron/exon boundary 1355
theoretical NMD boundary in CDS 1135
length of CDS 1260
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)
64929
chromosomal position
(for ins/del: last normal base / first normal base)
89861832
original gDNA sequence snippet ATTCCTTCCATGTATAAGCCGAAAGCTAAAACGAATTAAAA
altered gDNA sequence snippet ATTCCTTCCATGTATAAGCCAAAAGCTAAAACGAATTAAAA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MESISMMGSP KSLSETFLPN GINGIKDARK VTVGVIGSGD FAKSLTIRLI RCGYHVVIGS
RNPKFASEFF PHVVDVTHHE DALTKTNIIF VAIHREHYTS LWDLRHLLVG KILIDVSNNM
RINQYPESNA EYLASLFPDS LIVKGFNVVS AWALQLGPKD ASRQVYICSN NIQARQQVIE
LARQLNFIPI DLGSLSSARE IENLPLRLFT LWRGPVVVAI SLATFFFLYS FVRDVIHPYA
RNQQSDFYKI PIEIVNKTLP IVAITLLSLV YLAGLLAAAY QLYYGTKYRR FPPWLETWLQ
CRKQLGLLSF FFAMVHVAYS LCLPMRRSER YLFLNMAYQQ VHANIENSWN EEEVWRIEMY
ISFGIMSLGL LSLLAVTSIP SVSNALNWRE FSFIQIFCSF ADTQTELELE FVFLLTLLL*
mutated AA sequence N/A
speed 1.00 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 1.37293620422568e-09 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:89861832G>AN/A show variant in all transcripts   IGV
HGNC symbol STEAP2
Ensembl transcript ID ENST00000402625
Genbank transcript ID N/A
UniProt peptide Q8NFT2
alteration type single base exchange
alteration region intron
DNA changes g.64929G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs194524
databasehomozygous (A/A)heterozygousallele carriers
1000G30910341343
ExAC13918493118849
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0070.986
1.3110.994
(flanking)0.4950.995
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 increased64920wt: 0.2536 / mu: 0.2552 (marginal change - not scored)wt: GATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAAC
mu: GATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAAC
 catg|TATA
Acc marginally increased64921wt: 0.9895 / mu: 0.9897 (marginal change - not scored)wt: ATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAACG
mu: ATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAACG
 atgt|ATAA
Donor marginally increased64932wt: 0.9817 / mu: 0.9865 (marginal change - not scored)wt: CCGAAAGCTAAAACG
mu: CCAAAAGCTAAAACG
 GAAA|gcta
Donor marginally increased64926wt: 0.3947 / mu: 0.4315 (marginal change - not scored)wt: TATAAGCCGAAAGCT
mu: TATAAGCCAAAAGCT
 TAAG|ccga
Donor marginally increased64927wt: 0.9557 / mu: 0.9696 (marginal change - not scored)wt: ATAAGCCGAAAGCTA
mu: ATAAGCCAAAAGCTA
 AAGC|cgaa
Donor increased64933wt: 0.53 / mu: 0.69wt: CGAAAGCTAAAACGA
mu: CAAAAGCTAAAACGA
 AAAG|ctaa
Donor increased64925wt: 0.81 / mu: 0.99wt: GTATAAGCCGAAAGC
mu: GTATAAGCCAAAAGC
 ATAA|gccg
distance from splice site 2482
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features
start (aa)end (aa)featuredetails 
259407DOMAINFerric oxidoreductase.might get lost (downstream of altered splice site)
393413TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
409409METALIron (heme axial ligand) (By similarity).might get lost (downstream of altered splice site)
432452TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
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 149 / 149
chromosome 7
strand 1
last intron/exon boundary 1334
theoretical NMD boundary in CDS 1135
length of CDS 1212
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)
64929
chromosomal position
(for ins/del: last normal base / first normal base)
89861832
original gDNA sequence snippet ATTCCTTCCATGTATAAGCCGAAAGCTAAAACGAATTAAAA
altered gDNA sequence snippet ATTCCTTCCATGTATAAGCCAAAAGCTAAAACGAATTAAAA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MESISMMGSP KSLSETFLPN GINGIKDARK VTVGVIGSGD FAKSLTIRLI RCGYHVVIGS
RNPKFASEFF PHVVDVTHHE DALTKTNIIF VAIHREHYTS LWDLRHLLVG KILIDVSNNM
RINQYPESNA EYLASLFPDS LIVKGFNVVS AWALQLGPKD ASRQVYICSN NIQARQQVIE
LARQLNFIPI DLGSLSSARE IENLPLRLFT LWRGPVVVAI SLATFFFLYS FVRDVIHPYA
RNQQSDFYKI PIEIVNKTLP IVAITLLSLV YLAGLLAAAY QLYYGTKYRR FPPWLETWLQ
CRKQLGLLSF FFAMVHVAYS LCLPMRRSER YLFLNMAYQQ VHANIENSWN EEEVWRIEMY
ISFGIMSLGL LSLLAVTSIP SVSNALNWRE FSFIQWPSAT LLS*
mutated AA sequence N/A
speed 1.05 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 1.37293620422568e-09 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:89861832G>AN/A show variant in all transcripts   IGV
HGNC symbol STEAP2
Ensembl transcript ID ENST00000394629
Genbank transcript ID NM_001040666
UniProt peptide Q8NFT2
alteration type single base exchange
alteration region intron
DNA changes g.64929G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs194524
databasehomozygous (A/A)heterozygousallele carriers
1000G30910341343
ExAC13918493118849
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0070.986
1.3110.994
(flanking)0.4950.995
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 increased64920wt: 0.2536 / mu: 0.2552 (marginal change - not scored)wt: GATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAAC
mu: GATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAAC
 catg|TATA
Acc marginally increased64921wt: 0.9895 / mu: 0.9897 (marginal change - not scored)wt: ATTATTTTATTCCTTCCATGTATAAGCCGAAAGCTAAAACG
mu: ATTATTTTATTCCTTCCATGTATAAGCCAAAAGCTAAAACG
 atgt|ATAA
Donor marginally increased64932wt: 0.9817 / mu: 0.9865 (marginal change - not scored)wt: CCGAAAGCTAAAACG
mu: CCAAAAGCTAAAACG
 GAAA|gcta
Donor marginally increased64926wt: 0.3947 / mu: 0.4315 (marginal change - not scored)wt: TATAAGCCGAAAGCT
mu: TATAAGCCAAAAGCT
 TAAG|ccga
Donor marginally increased64927wt: 0.9557 / mu: 0.9696 (marginal change - not scored)wt: ATAAGCCGAAAGCTA
mu: ATAAGCCAAAAGCTA
 AAGC|cgaa
Donor increased64933wt: 0.53 / mu: 0.69wt: CGAAAGCTAAAACGA
mu: CAAAAGCTAAAACGA
 AAAG|ctaa
Donor increased64925wt: 0.81 / mu: 0.99wt: GTATAAGCCGAAAGC
mu: GTATAAGCCAAAAGC
 ATAA|gccg
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features
start (aa)end (aa)featuredetails 
432452TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
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 188 / 188
chromosome 7
strand 1
last intron/exon boundary 1521
theoretical NMD boundary in CDS 1283
length of CDS 1365
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)
64929
chromosomal position
(for ins/del: last normal base / first normal base)
89861832
original gDNA sequence snippet ATTCCTTCCATGTATAAGCCGAAAGCTAAAACGAATTAAAA
altered gDNA sequence snippet ATTCCTTCCATGTATAAGCCAAAAGCTAAAACGAATTAAAA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MESISMMGSP KSLSETFLPN GINGIKDARK VTVGVIGSGD FAKSLTIRLI RCGYHVVIGS
RNPKFASEFF PHVVDVTHHE DALTKTNIIF VAIHREHYTS LWDLRHLLVG KILIDVSNNM
RINQYPESNA EYLASLFPDS LIVKGFNVVS AWALQLGPKD ASRQVYICSN NIQARQQVIE
LARQLNFIPI DLGSLSSARE IENLPLRLFT LWRGPVVVAI SLATFFFLYS FVRDVIHPYA
RNQQSDFYKI PIEIVNKTLP IVAITLLSLV YLAGLLAAAY QLYYGTKYRR FPPWLETWLQ
CRKQLGLLSF FFAMVHVAYS LCLPMRRSER YLFLNMAYQQ VHANIENSWN EEEVWRIEMY
ISFGIMSLGL LSLLAVTSIP SVSNALNWRE FSFIQSTLGY VALLISTFHV LIYGWKRAFE
EEYYRFYTPP NFVLALVLPS IVILDLLQLC RYPD*
mutated AA sequence N/A
speed 1.00 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