MutationTaster - study a chromosomal position

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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000344922
Querying Taster for transcript #2: ENST00000344507
Querying Taster for transcript #3: ENST00000344441
MT speed 0 s - this script 3.55375 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MIA3	polymorphism_automatic	2.96984659087229e-13	simple_aae				K605R	single base exchange	rs2936052		show file
MIA3	polymorphism_automatic	2.96984659087229e-13	simple_aae				K605R	single base exchange	rs2936052		show file
MIA3	polymorphism_automatic	7.63622499677652e-08	without_aae					single base exchange	rs2936052		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999703 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:222802376A>GN/A show variant in all transcripts IGV

HGNC symbol

MIA3

Ensembl transcript ID

ENST00000344922

Genbank transcript ID

NM_198551

UniProt peptide

Q5JRA6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1814A>G
cDNA.1839A>G
g.10949A>G

AA changes

K605R Score: 26 explain score(s)

position(s) of altered AA
if AA alteration in CDS

605

frameshift

known variant

Reference ID: rs2936052

database	homozygous (G/G)	heterozygous	allele carriers
1000G	237	998	1235
ExAC	3987	20416	24403

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.08	0
	-0.12	0
(flanking)	-0.139	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

1356

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

605

mutated

all conserved

605

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000001021

606

Fcatus

no alignment

ENSFCAG00000002259

n/a

Mmusculus

no alignment

ENSMUSG00000056050

n/a

Ggallus

all conserved

ENSGALG00000009434

592

EKEIL

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000008184

550

Dmelanogaster

no alignment

FBgn0031842

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
23	1144	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5724 / 5724

position (AA) of stopcodon in wt / mu AA sequence

1908 / 1908

position of stopcodon in wt / mu cDNA

5749 / 5749

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

26 / 26

chromosome

strand

last intron/exon boundary

5439

theoretical NMD boundary in CDS

5363

length of CDS

5724

coding sequence (CDS) position

1814

cDNA position
(for ins/del: last normal base / first normal base)

1839

gDNA position
(for ins/del: last normal base / first normal base)

10949

chromosomal position
(for ins/del: last normal base / first normal base)

222802376

original gDNA sequence snippet

CGCTTTGGTAAATGGGGCCAAACTGCACACGCTTTCAGTGG

altered gDNA sequence snippet

CGCTTTGGTAAATGGGGCCAGACTGCACACGCTTTCAGTGG

original cDNA sequence snippet

CGCTTTGGTAAATGGGGCCAAACTGCACACGCTTTCAGTGG

altered cDNA sequence snippet

CGCTTTGGTAAATGGGGCCAGACTGCACACGCTTTCAGTGG

wildtype AA sequence

MAAAPGLLVW LLVLRLPWRV PGQLDPSTGR RFSEHKLCAD DECSMLMYRG EALEDFTGPD
CRFVNFKKGD PVYVYYKLAR GWPEVWAGSV GRTFGYFPKD LIQVVHEYTK EELQVPTDET
DFVCFDGGRD DFHNYNVEEL LGFLELYNSA ATDSEKAVEK TLQDMEKNPE LSKEREPEPE
PVEANSEESD SVFSENTEDL QEQFTTQKHH SHANSQANHA QGEQASFESF EEMLQDKLKV
PESENNKTSN SSQVSNEQDK IDAYKLLKKE MTLDLKTKFG STADALVSDD ETTRLVTSLE
DDFDEELDTE YYAVGKEDEE NQEDFDELPL LTFTDGEDMK TPAKSGVEKY PTDKEQNSNE
EDKVQLTVPP GIKNDDKNIL TTWGDTIFSI VTGGEETRDT MDLESSSSEE EKEDDDDALV
PDSKQGKPQS ATDYSDPDNV DDGLFIVDIP KTNNDKEVNA EHHIKGKGRG VQESKRGLVQ
DKTELEDENQ EGMTVHSSVH SNNLNSMPAA EKGKDTLKSA YDDTENDLKG AAIHISKGML
HEEKPGEQIL EGGSESESAQ KAAGNQMNDR KIQQESLGSA PLMGDDHPNA SRDSVEGDAL
VNGAKLHTLS VEHQREELKE ELVLKTQNQP RFSSPDEIDL PRELEDEVPI LGRNLPWQQE
RDVAATASKQ MSEKIRLSEG EAKEDSLDEE FFHHKAMQGT EVGQTDQTDS TGGPAFLSKV
EEDDYPSEEL LEDENAINAK RSKEKNPGNQ GRQFDVNLQV PDRAVLGTIH PDPEIEESKQ
ETSMILDSEK TSETAAKGVN TGGREPNTMV EKERPLADKK AQRPFERSDF SDSIKIQTPE
LGEVFQNKDS DYLKNDNPEE HLKTSGLAGE PEGELSKEDH ENTEKYMGTE SQGSAAAEPE
DDSFHWTPHT SVEPGHSDKR EDLLIISSFF KEQQSLQRFQ KYFNVHELEA LLQEMSSKLK
SAQQESLPYN MEKVLDKVFR ASESQILSIA EKMLDTRVAE NRDLGMNENN IFEEAAVLDD
IQDLIYFVRY KHSTAEETAT LVMAPPLEEG LGGAMEEMQP LHEDNFSREK TAELNVQVPE
EPTHLDQRVI GDTHASEVSQ KPNTEKDLDP GPVTTEDTPM DAIDANKQPE TAAEEPASVT
PLENAILLIY SFMFYLTKSL VATLPDDVQP GPDFYGLPWK PVFITAFLGI ASFAIFLWRT
VLVVKDRVYQ VTEQQISEKL KTIMKENTEL VQKLSNYEQK IKESKKHVQE TRKQNMILSD
EAIKYKDKIK TLEKNQEILD DTAKNLRVML ESEREQNVKN QDLISENKKS IEKLKDVISM
NASEFSEVQI ALNEAKLSEE KVKSECHRVQ EENARLKKKK EQLQQEIEDW SKLHAELSEQ
IKSFEKSQKD LEVALTHKDD NINALTNCIT QLNLLECESE SEGQNKGGND SDELANGEVG
GDRNEKMKNQ IKQMMDVSRT QTAISVVEED LKLLQLKLRA SVSTKCNLED QVKKLEDDRN
SLQAAKAGLE DECKTLRQKV EILNELYQQK EMALQKKLSQ EEYERQEREH RLSAADEKAV
SAAEEVKTYK RRIEEMEDEL QKTERSFKNQ IATHEKKAHE NWLKARAAER AIAEEKREAA
NLRHKLLELT QKMAMLQEEP VIVKPMPGKP NTQNPPRRGP LSQNGSFGPS PVSGGECSPP
LTVEPPVRPL SATLNRRDMP RSEFGSVDGP LPHPRWSAEA SGKPSPSDPG SGTATMMNSS
SRGSSPTRVL DEGKVNMAPK GPPPFPGVPL MSTPMGGPVP PPIRYGPPPQ LCGPFGPRPL
PPPFGPGMRP PLGLREFAPG VPPGRRDLPL HPRGFLPGHA PFRPLGSLGP REYFIPGTRL
PPPTHGPQEY PPPPAVRDLL PSGSRDEPPP ASQSTSQDCS QALKQSP*

mutated AA sequence

MAAAPGLLVW LLVLRLPWRV PGQLDPSTGR RFSEHKLCAD DECSMLMYRG EALEDFTGPD
CRFVNFKKGD PVYVYYKLAR GWPEVWAGSV GRTFGYFPKD LIQVVHEYTK EELQVPTDET
DFVCFDGGRD DFHNYNVEEL LGFLELYNSA ATDSEKAVEK TLQDMEKNPE LSKEREPEPE
PVEANSEESD SVFSENTEDL QEQFTTQKHH SHANSQANHA QGEQASFESF EEMLQDKLKV
PESENNKTSN SSQVSNEQDK IDAYKLLKKE MTLDLKTKFG STADALVSDD ETTRLVTSLE
DDFDEELDTE YYAVGKEDEE NQEDFDELPL LTFTDGEDMK TPAKSGVEKY PTDKEQNSNE
EDKVQLTVPP GIKNDDKNIL TTWGDTIFSI VTGGEETRDT MDLESSSSEE EKEDDDDALV
PDSKQGKPQS ATDYSDPDNV DDGLFIVDIP KTNNDKEVNA EHHIKGKGRG VQESKRGLVQ
DKTELEDENQ EGMTVHSSVH SNNLNSMPAA EKGKDTLKSA YDDTENDLKG AAIHISKGML
HEEKPGEQIL EGGSESESAQ KAAGNQMNDR KIQQESLGSA PLMGDDHPNA SRDSVEGDAL
VNGARLHTLS VEHQREELKE ELVLKTQNQP RFSSPDEIDL PRELEDEVPI LGRNLPWQQE
RDVAATASKQ MSEKIRLSEG EAKEDSLDEE FFHHKAMQGT EVGQTDQTDS TGGPAFLSKV
EEDDYPSEEL LEDENAINAK RSKEKNPGNQ GRQFDVNLQV PDRAVLGTIH PDPEIEESKQ
ETSMILDSEK TSETAAKGVN TGGREPNTMV EKERPLADKK AQRPFERSDF SDSIKIQTPE
LGEVFQNKDS DYLKNDNPEE HLKTSGLAGE PEGELSKEDH ENTEKYMGTE SQGSAAAEPE
DDSFHWTPHT SVEPGHSDKR EDLLIISSFF KEQQSLQRFQ KYFNVHELEA LLQEMSSKLK
SAQQESLPYN MEKVLDKVFR ASESQILSIA EKMLDTRVAE NRDLGMNENN IFEEAAVLDD
IQDLIYFVRY KHSTAEETAT LVMAPPLEEG LGGAMEEMQP LHEDNFSREK TAELNVQVPE
EPTHLDQRVI GDTHASEVSQ KPNTEKDLDP GPVTTEDTPM DAIDANKQPE TAAEEPASVT
PLENAILLIY SFMFYLTKSL VATLPDDVQP GPDFYGLPWK PVFITAFLGI ASFAIFLWRT
VLVVKDRVYQ VTEQQISEKL KTIMKENTEL VQKLSNYEQK IKESKKHVQE TRKQNMILSD
EAIKYKDKIK TLEKNQEILD DTAKNLRVML ESEREQNVKN QDLISENKKS IEKLKDVISM
NASEFSEVQI ALNEAKLSEE KVKSECHRVQ EENARLKKKK EQLQQEIEDW SKLHAELSEQ
IKSFEKSQKD LEVALTHKDD NINALTNCIT QLNLLECESE SEGQNKGGND SDELANGEVG
GDRNEKMKNQ IKQMMDVSRT QTAISVVEED LKLLQLKLRA SVSTKCNLED QVKKLEDDRN
SLQAAKAGLE DECKTLRQKV EILNELYQQK EMALQKKLSQ EEYERQEREH RLSAADEKAV
SAAEEVKTYK RRIEEMEDEL QKTERSFKNQ IATHEKKAHE NWLKARAAER AIAEEKREAA
NLRHKLLELT QKMAMLQEEP VIVKPMPGKP NTQNPPRRGP LSQNGSFGPS PVSGGECSPP
LTVEPPVRPL SATLNRRDMP RSEFGSVDGP LPHPRWSAEA SGKPSPSDPG SGTATMMNSS
SRGSSPTRVL DEGKVNMAPK GPPPFPGVPL MSTPMGGPVP PPIRYGPPPQ LCGPFGPRPL
PPPFGPGMRP PLGLREFAPG VPPGRRDLPL HPRGFLPGHA PFRPLGSLGP REYFIPGTRL
PPPTHGPQEY PPPPAVRDLL PSGSRDEPPP ASQSTSQDCS QALKQSP*

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

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999703 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:222802376A>GN/A show variant in all transcripts IGV

HGNC symbol

MIA3

Ensembl transcript ID

ENST00000344441

Genbank transcript ID

N/A

UniProt peptide

Q5JRA6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1814A>G
cDNA.1823A>G
g.10949A>G

AA changes

K605R Score: 26 explain score(s)

position(s) of altered AA
if AA alteration in CDS

605

frameshift

known variant

Reference ID: rs2936052

database	homozygous (G/G)	heterozygous	allele carriers
1000G	237	998	1235
ExAC	3987	20416	24403

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.08	0
	-0.12	0
(flanking)	-0.139	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

1356

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

605

mutated

all conserved

605

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000001021

606

Fcatus

no alignment

ENSFCAG00000002259

n/a

Mmusculus

no alignment

ENSMUSG00000056050

n/a

Ggallus

all conserved

ENSGALG00000009434

592

EKEIL

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000008184

550

Dmelanogaster

no alignment

FBgn0031842

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
23	1144	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5724 / 5724

position (AA) of stopcodon in wt / mu AA sequence

1908 / 1908

position of stopcodon in wt / mu cDNA

5733 / 5733

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

10 / 10

chromosome

strand

last intron/exon boundary

5423

theoretical NMD boundary in CDS

5363

length of CDS

5724

coding sequence (CDS) position

1814

cDNA position
(for ins/del: last normal base / first normal base)

1823

gDNA position
(for ins/del: last normal base / first normal base)

10949

chromosomal position
(for ins/del: last normal base / first normal base)

222802376

original gDNA sequence snippet

CGCTTTGGTAAATGGGGCCAAACTGCACACGCTTTCAGTGG

altered gDNA sequence snippet

CGCTTTGGTAAATGGGGCCAGACTGCACACGCTTTCAGTGG

original cDNA sequence snippet

CGCTTTGGTAAATGGGGCCAAACTGCACACGCTTTCAGTGG

altered cDNA sequence snippet

CGCTTTGGTAAATGGGGCCAGACTGCACACGCTTTCAGTGG

wildtype AA sequence

MAAAPGLLVW LLVLRLPWRV PGQLDPSTGR RFSEHKLCAD DECSMLMYRG EALEDFTGPD
CRFVNFKKGD PVYVYYKLAR GWPEVWAGSV GRTFGYFPKD LIQVVHEYTK EELQVPTDET
DFVCFDGGRD DFHNYNVEEL LGFLELYNSA ATDSEKAVEK TLQDMEKNPE LSKEREPEPE
PVEANSEESD SVFSENTEDL QEQFTTQKHH SHANSQANHA QGEQASFESF EEMLQDKLKV
PESENNKTSN SSQVSNEQDK IDAYKLLKKE MTLDLKTKFG STADALVSDD ETTRLVTSLE
DDFDEELDTE YYAVGKEDEE NQEDFDELPL LTFTDGEDMK TPAKSGVEKY PTDKEQNSNE
EDKVQLTVPP GIKNDDKNIL TTWGDTIFSI VTGGEETRDT MDLESSSSEE EKEDDDDALV
PDSKQGKPQS ATDYSDPDNV DDGLFIVDIP KTNNDKEVNA EHHIKGKGRG VQESKRGLVQ
DKTELEDENQ EGMTVHSSVH SNNLNSMPAA EKGKDTLKSA YDDTENDLKG AAIHISKGML
HEEKPGEQIL EGGSESESAQ KAAGNQMNDR KIQQESLGSA PLMGDDHPNA SRDSVEGDAL
VNGAKLHTLS VEHQREELKE ELVLKTQNQP RFSSPDEIDL PRELEDEVPI LGRNLPWQQE
RDVAATASKQ MSEKIRLSEG EAKEDSLDEE FFHHKAMQGT EVGQTDQTDS TGGPAFLSKV
EEDDYPSEEL LEDENAINAK RSKEKNPGNQ GRQFDVNLQV PDRAVLGTIH PDPEIEESKQ
ETSMILDSEK TSETAAKGVN TGGREPNTMV EKERPLADKK AQRPFERSDF SDSIKIQTPE
LGEVFQNKDS DYLKNDNPEE HLKTSGLAGE PEGELSKEDH ENTEKYMGTE SQGSAAAEPE
DDSFHWTPHT SVEPGHSDKR EDLLIISSFF KEQQSLQRFQ KYFNVHELEA LLQEMSSKLK
SAQQESLPYN MEKVLDKVFR ASESQILSIA EKMLDTRVAE NRDLGMNENN IFEEAAVLDD
IQDLIYFVRY KHSTAEETAT LVMAPPLEEG LGGAMEEMQP LHEDNFSREK TAELNVQVPE
EPTHLDQRVI GDTHASEVSQ KPNTEKDLDP GPVTTEDTPM DAIDANKQPE TAAEEPASVT
PLENAILLIY SFMFYLTKSL VATLPDDVQP GPDFYGLPWK PVFITAFLGI ASFAIFLWRT
VLVVSNTVYY VTEQQISEKL KTIMKENTEL VQKLSNYEQK IKESKKHVQE TRKQNMILSD
EAIKYKDKIK TLEKNQEILD DTAKNLRVML ESEREQNVKN QDLISENKKS IEKLKDVISM
NASEFSEVQI ALNEAKLSEE KVKSECHRVQ EENARLKKKK EQLQQEIEDW SKLHAELSEQ
IKSFEKSQKD LEVALTHKDD NINALTNCIT QLNLLECESE SEGQNKGGND SDELANGEVG
GDRNEKMKNQ IKQMMDVSRT QTAISVVEED LKLLQLKLRA SVSTKCNLED QVKKLEDDRN
SLQAAKAGLE DECKTLRQKV EILNELYQQK EMALQKKLSQ EEYERQEREH RLSAADEKAV
SAAEEVKTYK RRIEEMEDEL QKTERSFKNQ IATHEKKAHE NWLKARAAER AIAEEKREAA
NLRHKLLELT QKMAMLQEEP VIVKPMPGKP NTQNPPRRGP LSQNGSFGPS PVSGGECSPP
LTVEPPVRPL SATLNRRDMP RSEFGSVDGP LPHPRWSAEA SGKPSPSDPG SGTATMMNSS
SRGSSPTRVL DEGKVNMAPK GPPPFPGVPL MSTPMGGPVP PPIRYGPPPQ LCGPFGPRPL
PPPFGPGMRP PLGLREFAPG VPPGRRDLPL HPRGFLPGHA PFRPLGSLGP REYFIPGTRL
PPPTHGPQEY PPPPAVRDLL PSGSRDEPPP ASQSTSQDCS QALKQSP*

mutated AA sequence

MAAAPGLLVW LLVLRLPWRV PGQLDPSTGR RFSEHKLCAD DECSMLMYRG EALEDFTGPD
CRFVNFKKGD PVYVYYKLAR GWPEVWAGSV GRTFGYFPKD LIQVVHEYTK EELQVPTDET
DFVCFDGGRD DFHNYNVEEL LGFLELYNSA ATDSEKAVEK TLQDMEKNPE LSKEREPEPE
PVEANSEESD SVFSENTEDL QEQFTTQKHH SHANSQANHA QGEQASFESF EEMLQDKLKV
PESENNKTSN SSQVSNEQDK IDAYKLLKKE MTLDLKTKFG STADALVSDD ETTRLVTSLE
DDFDEELDTE YYAVGKEDEE NQEDFDELPL LTFTDGEDMK TPAKSGVEKY PTDKEQNSNE
EDKVQLTVPP GIKNDDKNIL TTWGDTIFSI VTGGEETRDT MDLESSSSEE EKEDDDDALV
PDSKQGKPQS ATDYSDPDNV DDGLFIVDIP KTNNDKEVNA EHHIKGKGRG VQESKRGLVQ
DKTELEDENQ EGMTVHSSVH SNNLNSMPAA EKGKDTLKSA YDDTENDLKG AAIHISKGML
HEEKPGEQIL EGGSESESAQ KAAGNQMNDR KIQQESLGSA PLMGDDHPNA SRDSVEGDAL
VNGARLHTLS VEHQREELKE ELVLKTQNQP RFSSPDEIDL PRELEDEVPI LGRNLPWQQE
RDVAATASKQ MSEKIRLSEG EAKEDSLDEE FFHHKAMQGT EVGQTDQTDS TGGPAFLSKV
EEDDYPSEEL LEDENAINAK RSKEKNPGNQ GRQFDVNLQV PDRAVLGTIH PDPEIEESKQ
ETSMILDSEK TSETAAKGVN TGGREPNTMV EKERPLADKK AQRPFERSDF SDSIKIQTPE
LGEVFQNKDS DYLKNDNPEE HLKTSGLAGE PEGELSKEDH ENTEKYMGTE SQGSAAAEPE
DDSFHWTPHT SVEPGHSDKR EDLLIISSFF KEQQSLQRFQ KYFNVHELEA LLQEMSSKLK
SAQQESLPYN MEKVLDKVFR ASESQILSIA EKMLDTRVAE NRDLGMNENN IFEEAAVLDD
IQDLIYFVRY KHSTAEETAT LVMAPPLEEG LGGAMEEMQP LHEDNFSREK TAELNVQVPE
EPTHLDQRVI GDTHASEVSQ KPNTEKDLDP GPVTTEDTPM DAIDANKQPE TAAEEPASVT
PLENAILLIY SFMFYLTKSL VATLPDDVQP GPDFYGLPWK PVFITAFLGI ASFAIFLWRT
VLVVSNTVYY VTEQQISEKL KTIMKENTEL VQKLSNYEQK IKESKKHVQE TRKQNMILSD
EAIKYKDKIK TLEKNQEILD DTAKNLRVML ESEREQNVKN QDLISENKKS IEKLKDVISM
NASEFSEVQI ALNEAKLSEE KVKSECHRVQ EENARLKKKK EQLQQEIEDW SKLHAELSEQ
IKSFEKSQKD LEVALTHKDD NINALTNCIT QLNLLECESE SEGQNKGGND SDELANGEVG
GDRNEKMKNQ IKQMMDVSRT QTAISVVEED LKLLQLKLRA SVSTKCNLED QVKKLEDDRN
SLQAAKAGLE DECKTLRQKV EILNELYQQK EMALQKKLSQ EEYERQEREH RLSAADEKAV
SAAEEVKTYK RRIEEMEDEL QKTERSFKNQ IATHEKKAHE NWLKARAAER AIAEEKREAA
NLRHKLLELT QKMAMLQEEP VIVKPMPGKP NTQNPPRRGP LSQNGSFGPS PVSGGECSPP
LTVEPPVRPL SATLNRRDMP RSEFGSVDGP LPHPRWSAEA SGKPSPSDPG SGTATMMNSS
SRGSSPTRVL DEGKVNMAPK GPPPFPGVPL MSTPMGGPVP PPIRYGPPPQ LCGPFGPRPL
PPPFGPGMRP PLGLREFAPG VPPGRRDLPL HPRGFLPGHA PFRPLGSLGP REYFIPGTRL
PPPTHGPQEY PPPPAVRDLL PSGSRDEPPP ASQSTSQDCS QALKQSP*

speed

0.81 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.99999992363775 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:222802376A>GN/A show variant in all transcripts IGV

HGNC symbol

MIA3

Ensembl transcript ID

ENST00000344507

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.10949A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs2936052

database	homozygous (G/G)	heterozygous	allele carriers
1000G	237	998	1235
ExAC	3987	20416	24403

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.08	0
	-0.12	0
(flanking)	-0.139	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

340

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

4 / 4

chromosome

strand

last intron/exon boundary

1478

theoretical NMD boundary in CDS

1424

length of CDS

1503

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)

10949

chromosomal position
(for ins/del: last normal base / first normal base)

222802376

original gDNA sequence snippet

CGCTTTGGTAAATGGGGCCAAACTGCACACGCTTTCAGTGG

altered gDNA sequence snippet

CGCTTTGGTAAATGGGGCCAGACTGCACACGCTTTCAGTGG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

mutated AA sequence

N/A

speed

0.61 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems