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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000506092
Querying Taster for transcript #2: ENST00000399564
MT speed 0 s - this script 3.113003 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MROH2B	polymorphism_automatic	4.27109458911445e-11	simple_aae		affected		N473K	single base exchange	rs10054110		show file
MROH2B	polymorphism_automatic	4.27109458911445e-11	simple_aae		affected		N918K	single base exchange	rs10054110		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999957289 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:41018452A>TN/A show variant in all transcripts IGV

HGNC symbol

MROH2B

Ensembl transcript ID

ENST00000506092

Genbank transcript ID

N/A

UniProt peptide

Q7Z745

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1419T>A
cDNA.1710T>A
g.52993T>A

AA changes

N473K Score: 94 explain score(s)

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

473

frameshift

known variant

Reference ID: rs10054110

database	homozygous (T/T)	heterozygous	allele carriers
1000G	305	1121	1426
ExAC	7359	18049	25408

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.771	0.023
	0.443	0.02
(flanking)	0.466	0.013

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	52997	wt: 0.8255 / mu: 0.8892 (marginal change - not scored)	wt: ATGATATTGAGGTAA mu: AAGATATTGAGGTAA	GATA\|ttga
Donor increased	52988	wt: 0.54 / mu: 0.99	wt: TGCTGACAAATGATA mu: TGCTGACAAAAGATA	CTGA\|caaa
Donor gained	52993	0.75	mu: ACAAAAGATATTGAG	AAAA\|gata

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

473

mutated

not conserved

473

Ptroglodytes

all identical

ENSPTRG00000016825

623

Mmulatta

all identical

ENSMMUG00000004774

912

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000022155

914

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0040236

1027

Celegans

not conserved

C34G6.1

1060

GHASDFEPLS

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
531	569	REPEAT	HEAT 6.	might get lost (downstream of altered splice site)
572	611	REPEAT	HEAT 7.	might get lost (downstream of altered splice site)
624	624	CONFLICT	A -> V (in Ref. 1; CAH18199).	might get lost (downstream of altered splice site)
662	699	REPEAT	HEAT 8.	might get lost (downstream of altered splice site)
777	819	REPEAT	HEAT 9.	might get lost (downstream of altered splice site)
897	897	CONFLICT	L -> P (in Ref. 4; BAC05103).	might get lost (downstream of altered splice site)
964	1001	REPEAT	HEAT 10.	might get lost (downstream of altered splice site)
1021	1059	REPEAT	HEAT 11.	might get lost (downstream of altered splice site)
1059	1059	CONFLICT	V -> L (in Ref. 5; AAP97306).	might get lost (downstream of altered splice site)
1072	1072	CONFLICT	E -> D (in Ref. 5; AAP97306).	might get lost (downstream of altered splice site)
1112	1151	REPEAT	HEAT 12.	might get lost (downstream of altered splice site)
1157	1195	REPEAT	HEAT 13.	might get lost (downstream of altered splice site)
1171	1171	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1258	1295	REPEAT	HEAT 14.	might get lost (downstream of altered splice site)
1363	1402	REPEAT	HEAT 15.	might get lost (downstream of altered splice site)
1424	1424	CONFLICT	I -> T (in Ref. 1; CAH18199 and 5; AAP97306).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3423 / 3423

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

1141 / 1141

position of stopcodon in wt / mu cDNA

3714 / 3714

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

292 / 292

chromosome

strand

-1

last intron/exon boundary

3608

theoretical NMD boundary in CDS

3266

length of CDS

3423

coding sequence (CDS) position

1419

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

1710

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

52993

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

41018452

original gDNA sequence snippet

ACTGCGAAAGTGCTGACAAATGATATTGAGGTAAGTAATCC

altered gDNA sequence snippet

ACTGCGAAAGTGCTGACAAAAGATATTGAGGTAAGTAATCC

original cDNA sequence snippet

ACTGCGAAAGTGCTGACAAATGATATTGAGGCACCAGAGAA

altered cDNA sequence snippet

ACTGCGAAAGTGCTGACAAAAGATATTGAGGCACCAGAGAA

wildtype AA sequence

MPQVLWPRIL TFVVPAEYTE ALEPLFSIIR ILIMAEEKKQ HSAKESTALV VSTGAVKLPS
PQQLLARLLV ISMPASLGEL RGAGAIGLLK ILPEIIHPKL VDLWKTRLPE LLQPLEGKNI
STVLWETMLL QLLKESLWKI SDVAWTIQLT QDFKQQMGSY SNNSTEKKFL WKALGTTLAC
CQDSDFVNSQ IKEFLTAPNQ LGDQRQGITS ILGYCAENHL DIVLKVLKTF QNQEKFFMNR
CKSLFSGKKS LTKTDVMVIY GAVALHAPKK QLLSRLNQDI ISQVLSLHGQ CSQVLGMSVM
NKDMDLQMSF TRSITEIGIA VQDAEDQGFQ FSYKEMLIGY MLDFIRDEPL DSLASPIRWK
ALIAIRYLSK LKPQLSLQDH LNILEENIRR LLPLPPLENL KSEGQTDKDK EHIQFLYERS
MDALGKLLKT MMWDNVNAED CQEMFNLLQM WLVSQKEWER ERAFQITAKV LTNDIEAPEN
FKIGSLLGLL APHSCDTLPT IRQAAASSTI GLFYIKGIHL EVERLQGLQE GLESDDVQVQ
IKISSKIAKI VSKFIPNEEI LMFLEEMLDG LESLNPTCTK ACGIWMITVL KQQGAALEDQ
LLEILGTIYH HMPVLRQKEE SFQFILEAIS QIASFHMDTV VVNLLQKPLP FDRDTKTLWK
ALAEKPASSG KLLQALIDKL ETELEDDIAR VEAISVACAM YEVISMGTSV TGLYPELFTL
LLKLVSCTLG QKMLTCPWSH RRHVMQQGEQ QQIPDPCRLS TATLKCLQAQ AMREGLAKES
DEGDNLWTLL SSPSTHHIGV CSLARSMAVW QHGVILDIME QLLSSLTSSS ENYRITGAAF
FSELMKEPIL WKHGNLRNVL ILMDQSAWDS NATLRQMAIR GLGNTASGAP HKVKKHKQLM
LESIIRGLYH LARTEVVCES LKALKKILEL LTDRDVSFYF KEIVLQTRTF FEDEQDDVRL
TAIFLFEDLA PLTGRRWKIF FAEEIKKSLI SFLLHLWDPN PKIGVACRDV LMVCIPFLGL
QELYGVLDRL LDQDLPRARD FYRQFCVKLA KKNQEILWIL HTHSFTFFTS TWEVIRSAAV
KLTDAVVLNL TSQYVELLDR EQLTTRLQAL RQDPCISVQR AAEAALQTLL RRCKETSIPL
*

mutated AA sequence

MPQVLWPRIL TFVVPAEYTE ALEPLFSIIR ILIMAEEKKQ HSAKESTALV VSTGAVKLPS
PQQLLARLLV ISMPASLGEL RGAGAIGLLK ILPEIIHPKL VDLWKTRLPE LLQPLEGKNI
STVLWETMLL QLLKESLWKI SDVAWTIQLT QDFKQQMGSY SNNSTEKKFL WKALGTTLAC
CQDSDFVNSQ IKEFLTAPNQ LGDQRQGITS ILGYCAENHL DIVLKVLKTF QNQEKFFMNR
CKSLFSGKKS LTKTDVMVIY GAVALHAPKK QLLSRLNQDI ISQVLSLHGQ CSQVLGMSVM
NKDMDLQMSF TRSITEIGIA VQDAEDQGFQ FSYKEMLIGY MLDFIRDEPL DSLASPIRWK
ALIAIRYLSK LKPQLSLQDH LNILEENIRR LLPLPPLENL KSEGQTDKDK EHIQFLYERS
MDALGKLLKT MMWDNVNAED CQEMFNLLQM WLVSQKEWER ERAFQITAKV LTKDIEAPEN
FKIGSLLGLL APHSCDTLPT IRQAAASSTI GLFYIKGIHL EVERLQGLQE GLESDDVQVQ
IKISSKIAKI VSKFIPNEEI LMFLEEMLDG LESLNPTCTK ACGIWMITVL KQQGAALEDQ
LLEILGTIYH HMPVLRQKEE SFQFILEAIS QIASFHMDTV VVNLLQKPLP FDRDTKTLWK
ALAEKPASSG KLLQALIDKL ETELEDDIAR VEAISVACAM YEVISMGTSV TGLYPELFTL
LLKLVSCTLG QKMLTCPWSH RRHVMQQGEQ QQIPDPCRLS TATLKCLQAQ AMREGLAKES
DEGDNLWTLL SSPSTHHIGV CSLARSMAVW QHGVILDIME QLLSSLTSSS ENYRITGAAF
FSELMKEPIL WKHGNLRNVL ILMDQSAWDS NATLRQMAIR GLGNTASGAP HKVKKHKQLM
LESIIRGLYH LARTEVVCES LKALKKILEL LTDRDVSFYF KEIVLQTRTF FEDEQDDVRL
TAIFLFEDLA PLTGRRWKIF FAEEIKKSLI SFLLHLWDPN PKIGVACRDV LMVCIPFLGL
QELYGVLDRL LDQDLPRARD FYRQFCVKLA KKNQEILWIL HTHSFTFFTS TWEVIRSAAV
KLTDAVVLNL TSQYVELLDR EQLTTRLQAL RQDPCISVQR AAEAALQTLL RRCKETSIPL
*

speed

0.30 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: 0.999999999957289 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:41018452A>TN/A show variant in all transcripts IGV

HGNC symbol

MROH2B

Ensembl transcript ID

ENST00000399564

Genbank transcript ID

NM_173489

UniProt peptide

Q7Z745

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2754T>A
cDNA.3205T>A
g.52993T>A

AA changes

N918K Score: 94 explain score(s)

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

918

frameshift

known variant

Reference ID: rs10054110

database	homozygous (T/T)	heterozygous	allele carriers
1000G	305	1121	1426
ExAC	7359	18049	25408

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.771	0.023
	0.443	0.02
(flanking)	0.466	0.013

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	52997	wt: 0.8255 / mu: 0.8892 (marginal change - not scored)	wt: ATGATATTGAGGTAA mu: AAGATATTGAGGTAA	GATA\|ttga
Donor increased	52988	wt: 0.54 / mu: 0.99	wt: TGCTGACAAATGATA mu: TGCTGACAAAAGATA	CTGA\|caaa
Donor gained	52993	0.75	mu: ACAAAAGATATTGAG	AAAA\|gata

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

918

mutated

not conserved

918

Ptroglodytes

all identical

ENSPTRG00000016825

623

Mmulatta

all identical

ENSMMUG00000004774

912

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000022155

914

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0040236

1027

Celegans

not conserved

C34G6.1

1060

GHASDF

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
964	1001	REPEAT	HEAT 10.	might get lost (downstream of altered splice site)
1021	1059	REPEAT	HEAT 11.	might get lost (downstream of altered splice site)
1059	1059	CONFLICT	V -> L (in Ref. 5; AAP97306).	might get lost (downstream of altered splice site)
1072	1072	CONFLICT	E -> D (in Ref. 5; AAP97306).	might get lost (downstream of altered splice site)
1112	1151	REPEAT	HEAT 12.	might get lost (downstream of altered splice site)
1157	1195	REPEAT	HEAT 13.	might get lost (downstream of altered splice site)
1171	1171	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1258	1295	REPEAT	HEAT 14.	might get lost (downstream of altered splice site)
1363	1402	REPEAT	HEAT 15.	might get lost (downstream of altered splice site)
1424	1424	CONFLICT	I -> T (in Ref. 1; CAH18199 and 5; AAP97306).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4758 / 4758

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

1586 / 1586

position of stopcodon in wt / mu cDNA

5209 / 5209

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

452 / 452

chromosome

strand

-1

last intron/exon boundary

5103

theoretical NMD boundary in CDS

4601

length of CDS

4758

coding sequence (CDS) position

2754

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

3205

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

52993

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

41018452

original gDNA sequence snippet

ACTGCGAAAGTGCTGACAAATGATATTGAGGTAAGTAATCC

altered gDNA sequence snippet

ACTGCGAAAGTGCTGACAAAAGATATTGAGGTAAGTAATCC

original cDNA sequence snippet

ACTGCGAAAGTGCTGACAAATGATATTGAGGCACCAGAGAA

altered cDNA sequence snippet

ACTGCGAAAGTGCTGACAAAAGATATTGAGGCACCAGAGAA

wildtype AA sequence

MTLSTEESIE MFGDINLTLG MLNKEDIVNK EDIYSHLTSV IQNTDILDDA IVQRLIYYAS
KDMRDNNMLR EIRMLAGEVL VSLAAHDFNS VMYEVQSNFR ILELPDEFVV LALAELATSY
VSQSIPFMMM TLLTMQTMLR LAEDERMKGT FCIALEKFSK AIYKYVNHWR DFPYPRLDAN
RLSDKIFMLF WYIMEKWAPL ASPMQTLSIV KAHGPTVSLL LHREDFRGYA LGQVPWLLNQ
YKDKEIDFHV TQSLKQILTA AVLYDIGLPR SLRRSIFINL LQQICRAPEP PVKENEMKAS
SCFLILAHSN PGELMEFFDE QVRSNNEAIR VGILTLLRLA VNADEPRLRD HIISIERTVK
IVMGDLSTKV RNSVLLLIQT MCEKSYIEAR EGWPLIDYVF SQFATLNRNL EKPVKTNFHE
NEKEEESVRE TSLEVLKTLD PLVIGMPQVL WPRILTFVVP AEYTEALEPL FSIIRILIMA
EEKKQHSAKE STALVVSTGA VKLPSPQQLL ARLLVISMPA SLGELRGAGA IGLLKILPEI
IHPKLVDLWK TRLPELLQPL EGKNISTVLW ETMLLQLLKE SLWKISDVAW TIQLTQDFKQ
QMGSYSNNST EKKFLWKALG TTLACCQDSD FVNSQIKEFL TAPNQLGDQR QGITSILGYC
AENHLDIVLK VLKTFQNQEK FFMNRCKSLF SGKKSLTKTD VMVIYGAVAL HAPKKQLLSR
LNQDIISQVL SLHGQCSQVL GMSVMNKDMD LQMSFTRSIT EIGIAVQDAE DQGFQFSYKE
MLIGYMLDFI RDEPLDSLAS PIRWKALIAI RYLSKLKPQL SLQDHLNILE ENIRRLLPLP
PLENLKSEGQ TDKDKEHIQF LYERSMDALG KLLKTMMWDN VNAEDCQEMF NLLQMWLVSQ
KEWERERAFQ ITAKVLTNDI EAPENFKIGS LLGLLAPHSC DTLPTIRQAA ASSTIGLFYI
KGIHLEVERL QGLQEGLESD DVQVQIKISS KIAKIVSKFI PNEEILMFLE EMLDGLESLN
PTCTKACGIW MITVLKQQGA ALEDQLLEIL GTIYHHMPVL RQKEESFQFI LEAISQIASF
HMDTVVVNLL QKPLPFDRDT KTLWKALAEK PASSGKLLQA LIDKLETELE DDIARVEAIS
VACAMYEVIS MGTSVTGLYP ELFTLLLKLV SCTLGQKMLT CPWSHRRHVM QQGEQQQIPD
PCRLSTATLK CLQAQAMREG LAKESDEGDN LWTLLSSPST HHIGVCSLAR SMAVWQHGVI
LDIMEQLLSS LTSSSENYRI TGAAFFSELM KEPILWKHGN LRNVLILMDQ SAWDSNATLR
QMAIRGLGNT ASGAPHKVKK HKQLMLESII RGLYHLARTE VVCESLKALK KILELLTDRD
VSFYFKEIVL QTRTFFEDEQ DDVRLTAIFL FEDLAPLTGR RWKIFFAEEI KKSLISFLLH
LWDPNPKIGV ACRDVLMVCI PFLGLQELYG VLDRLLDQDL PRARDFYRQF CVKLAKKNQE
ILWILHTHSF TFFTSTWEVI RSAAVKLTDA VVLNLTSQYV ELLDREQLTT RLQALRQDPC
ISVQRAAEAA LQTLLRRCKE TSIPL*

mutated AA sequence

MTLSTEESIE MFGDINLTLG MLNKEDIVNK EDIYSHLTSV IQNTDILDDA IVQRLIYYAS
KDMRDNNMLR EIRMLAGEVL VSLAAHDFNS VMYEVQSNFR ILELPDEFVV LALAELATSY
VSQSIPFMMM TLLTMQTMLR LAEDERMKGT FCIALEKFSK AIYKYVNHWR DFPYPRLDAN
RLSDKIFMLF WYIMEKWAPL ASPMQTLSIV KAHGPTVSLL LHREDFRGYA LGQVPWLLNQ
YKDKEIDFHV TQSLKQILTA AVLYDIGLPR SLRRSIFINL LQQICRAPEP PVKENEMKAS
SCFLILAHSN PGELMEFFDE QVRSNNEAIR VGILTLLRLA VNADEPRLRD HIISIERTVK
IVMGDLSTKV RNSVLLLIQT MCEKSYIEAR EGWPLIDYVF SQFATLNRNL EKPVKTNFHE
NEKEEESVRE TSLEVLKTLD PLVIGMPQVL WPRILTFVVP AEYTEALEPL FSIIRILIMA
EEKKQHSAKE STALVVSTGA VKLPSPQQLL ARLLVISMPA SLGELRGAGA IGLLKILPEI
IHPKLVDLWK TRLPELLQPL EGKNISTVLW ETMLLQLLKE SLWKISDVAW TIQLTQDFKQ
QMGSYSNNST EKKFLWKALG TTLACCQDSD FVNSQIKEFL TAPNQLGDQR QGITSILGYC
AENHLDIVLK VLKTFQNQEK FFMNRCKSLF SGKKSLTKTD VMVIYGAVAL HAPKKQLLSR
LNQDIISQVL SLHGQCSQVL GMSVMNKDMD LQMSFTRSIT EIGIAVQDAE DQGFQFSYKE
MLIGYMLDFI RDEPLDSLAS PIRWKALIAI RYLSKLKPQL SLQDHLNILE ENIRRLLPLP
PLENLKSEGQ TDKDKEHIQF LYERSMDALG KLLKTMMWDN VNAEDCQEMF NLLQMWLVSQ
KEWERERAFQ ITAKVLTKDI EAPENFKIGS LLGLLAPHSC DTLPTIRQAA ASSTIGLFYI
KGIHLEVERL QGLQEGLESD DVQVQIKISS KIAKIVSKFI PNEEILMFLE EMLDGLESLN
PTCTKACGIW MITVLKQQGA ALEDQLLEIL GTIYHHMPVL RQKEESFQFI LEAISQIASF
HMDTVVVNLL QKPLPFDRDT KTLWKALAEK PASSGKLLQA LIDKLETELE DDIARVEAIS
VACAMYEVIS MGTSVTGLYP ELFTLLLKLV SCTLGQKMLT CPWSHRRHVM QQGEQQQIPD
PCRLSTATLK CLQAQAMREG LAKESDEGDN LWTLLSSPST HHIGVCSLAR SMAVWQHGVI
LDIMEQLLSS LTSSSENYRI TGAAFFSELM KEPILWKHGN LRNVLILMDQ SAWDSNATLR
QMAIRGLGNT ASGAPHKVKK HKQLMLESII RGLYHLARTE VVCESLKALK KILELLTDRD
VSFYFKEIVL QTRTFFEDEQ DDVRLTAIFL FEDLAPLTGR RWKIFFAEEI KKSLISFLLH
LWDPNPKIGV ACRDVLMVCI PFLGLQELYG VLDRLLDQDL PRARDFYRQF CVKLAKKNQE
ILWILHTHSF TFFTSTWEVI RSAAVKLTDA VVLNLTSQYV ELLDREQLTT RLQALRQDPC
ISVQRAAEAA LQTLLRRCKE TSIPL*

speed

0.82 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems