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: ENST00000539277
Querying Taster for transcript #2: ENST00000256062
Querying Taster for transcript #3: ENST00000552618
Querying Taster for transcript #4: ENST00000551659
Something went wrong:. 500 Internal Server Error

Internal Server Error

The server encountered an internal error or misconfiguration and was unable to complete your request.

Please contact the server administrator at dominik.seelow@bih-charite.de to inform them of the time this error occurred, and the actions you performed just before this error.

More information about this error may be available in the server error log.

MT speed 0.39 s - this script 2.740458 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000539277(MANE Select)	TMTC1	Deleterious	91\|9	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000256062	TMTC1	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000552618	TMTC1	Deleterious	193\|7	without_aae	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

12:29572132G>A_1_ENST00000539277

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 91|9 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:29572132G>A (GRCh38)

Gene symbol

TMTC1

Gene constraints

LOEUF: 0.81, LOF (oe): 0.65, misssense (oe): 0.97, synonymous (oe): 1.04 ? (gnomAD)

Ensembl transcript ID

ENST00000539277.6

Genbank transcript ID

NM_001193451 (exact from MANE)

UniProt / AlphaMissense peptide

TMTC1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1505C>T
g.212628C>T

AA changes

AAE:	A502V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs772670281
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	17	17

Protein conservation

Species	Match	AA	Alignment
Human		502	N	F	L	K	D	Q	G	R	N	K	E	A	I	Y	H	Y	R	T	A	L	K	L	Y	P
mutated	not conserved	502	N	F	L	K	D	Q	G	R	N	K	E	V	I	Y	H	Y	R	T	A	L	K	L	Y
Ptroglodytes	all identical	564	N	F	L	K	D	Q	G	R	N	K	E	A	I	Y	H	Y	R	T	A	L	K	L	Y
Mmulatta	all identical	564	N	F	L	K	D	Q	G	R	N	K	E	A	I	Y	H	Y	R	T	A	L	K	L	Y
Fcatus	all identical	566	N	F	L	K	D	Q	G	R	N	R	E	A	I	Y	H	Y	R	T	A	L	R	L	Y
Mmusculus	all identical	562	N	F	L	K	D	Q	G	R	N	K	E	A	I	Y	H	Y	R	T	A	L	K	L	Y
Ggallus	all identical	505	N	F	L	K	D	Q	G	R	N	I	E	A	I	Y	H	Y	K	T	A	L	K	L	Y
Trubripes	all identical	505	N	F	L	K	D	S	G	Q	L	Q	E	A	I	Q	H	Y	S	T	A	L	R	L	Y
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	785	N	F	L	K	D	Q	S	R	K	D	E	A	I	M	H	Y	K	T	V	L	R	L	Y

Protein features

Start (aa)	End (aa)	Feature	Details
460	882	TOPO_DOM	Extracellular	lost
483	516	REPEAT	TPR	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.86	0.001
	9.248	1
(flanking)	7.296	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

12

Strand

-1

Original gDNA sequence snippet

CCAAGGTCGGAACAAGGAAGCGATCTACCACTACAGAACAG

Altered gDNA sequence snippet

CCAAGGTCGGAACAAGGAAGTGATCTACCACTACAGAACAG

Original cDNA sequence snippet

CCAAGGTCGGAACAAGGAAGCGATCTACCACTACAGAACAG

Altered cDNA sequence snippet

CCAAGGTCGGAACAAGGAAGTGATCTACCACTACAGAACAG

Wildtype AA sequence

MVVTTSARGG GGDRTPSRRR GCGLAPAGAA ALLAGASCLC YGRSLQGEFV HDDVWAIVNN
PDVRPGAPLR WGIFTNDFWG KGMAENTSHK SYRPLCVLTF KLNIFLTGMN PFYFHAVNII
LHCLVTLVLM YTCDKTVFKN RGLAFVTALL FAVHPIHTEA VAGIVGRADV LACLLFLLAF
LSYNRSLDQG CVGGSFPSTV SPFFLLLSLF LGTCAMLVKE TGITVFGVCL VYDLFSLSNK
QDKSSNGALC PRSPQQPGSP QPSSLPGHPH RENGKQQRFP HKGAWGGCHS PLPPEPKSSG
FPVSPRAVWS MMRFLTYSYL LAFNVWLLLA PVTLCYDWQV GSIPLVETIW DMRNLATIFL
AVVMALLSLH CLAAFKRLEH KEVLVGLLFL VFPFIPASNL FFRVGFVVAE RVLYMPSMGY
CILFVHGLSK LCTWLNRCGA TTLIVSTVLL LLLFSWKTVK QNEIWLSRES LFRSGVQTLP
HNAKVHYNYA NFLKDQGRNK EAIYHYRTAL KLYPRHASAL NNLGTLTRDT AEAKMYYQRA
LQLHPQHNRA LFNLGNLLKS QEKKEEAITL LKDSIKYGPE FADAYSSLAS LLAEQERFKE
AEEIYQTGIK NCPDSSDLHN NYGVFLVDTG LPEKAVAHYQ QAIKLSPSHH VAMVNLGRLY
RSLGENSMAE EWYKRALQVA HKAEILSPLG ALYYNTGRYE EALQIYQEAA ALQPSQRELR
LALAQVLAVM GQTKEAEKMT NHIVSEETGC LECYRLLSAI YSKQENHDKA LDAIDKALQL
KPKDPKVISE LFFTKGNQLR EQNLLDKAFE SYRVAVQLNP DQAQAWMNMG GIQHIKGKYV
SARAYYERAL QLVPDSKLLK ENLAKLDRLE KRLQEVREKD QT*

Mutated AA sequence

MVVTTSARGG GGDRTPSRRR GCGLAPAGAA ALLAGASCLC YGRSLQGEFV HDDVWAIVNN
PDVRPGAPLR WGIFTNDFWG KGMAENTSHK SYRPLCVLTF KLNIFLTGMN PFYFHAVNII
LHCLVTLVLM YTCDKTVFKN RGLAFVTALL FAVHPIHTEA VAGIVGRADV LACLLFLLAF
LSYNRSLDQG CVGGSFPSTV SPFFLLLSLF LGTCAMLVKE TGITVFGVCL VYDLFSLSNK
QDKSSNGALC PRSPQQPGSP QPSSLPGHPH RENGKQQRFP HKGAWGGCHS PLPPEPKSSG
FPVSPRAVWS MMRFLTYSYL LAFNVWLLLA PVTLCYDWQV GSIPLVETIW DMRNLATIFL
AVVMALLSLH CLAAFKRLEH KEVLVGLLFL VFPFIPASNL FFRVGFVVAE RVLYMPSMGY
CILFVHGLSK LCTWLNRCGA TTLIVSTVLL LLLFSWKTVK QNEIWLSRES LFRSGVQTLP
HNAKVHYNYA NFLKDQGRNK EVIYHYRTAL KLYPRHASAL NNLGTLTRDT AEAKMYYQRA
LQLHPQHNRA LFNLGNLLKS QEKKEEAITL LKDSIKYGPE FADAYSSLAS LLAEQERFKE
AEEIYQTGIK NCPDSSDLHN NYGVFLVDTG LPEKAVAHYQ QAIKLSPSHH VAMVNLGRLY
RSLGENSMAE EWYKRALQVA HKAEILSPLG ALYYNTGRYE EALQIYQEAA ALQPSQRELR
LALAQVLAVM GQTKEAEKMT NHIVSEETGC LECYRLLSAI YSKQENHDKA LDAIDKALQL
KPKDPKVISE LFFTKGNQLR EQNLLDKAFE SYRVAVQLNP DQAQAWMNMG GIQHIKGKYV
SARAYYERAL QLVPDSKLLK ENLAKLDRLE KRLQEVREKD QT*

Position of stopcodon in wt / mu CDS

2649 / 2649

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

883 / 883

Position of stopcodon in wt / mu cDNA

2840 / 2840

Position of start ATG in wt / mu cDNA

192 / 192

Last intron/exon boundary

2699

Theoretical NMD boundary in CDS

2457

Length of CDS

2649

Coding sequence (CDS) position

1505

cDNA position

1696

gDNA position

212628

Chromosomal position

29572132

Speed

0.21 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

MutationT@ster 2025

Variant:

12:29572132G>A_2_ENST00000256062

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:29572132G>A (GRCh38)

Gene symbol

TMTC1

Gene constraints

LOEUF: 0.79, LOF (oe): 0.63, misssense (oe): 0.91, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000256062.9

Genbank transcript ID

NM_175861 (by similarity)

UniProt / AlphaMissense peptide

TMTC1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1181C>T
g.212628C>T

AA changes

AAE:	A394V	?
Score:	64

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs772670281
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	17	17

Protein conservation

Species	Match	AA	Alignment
Human		394	N	F	L	K	D	Q	G	R	N	K	E	A	I	Y	H	Y	R	T	A	L	K	L	Y	P
mutated	not conserved	394	N	F	L	K	D	Q	G	R	N	K	E	V	I	Y	H	Y	R	T	A	L	K	L	Y
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)	Feature	Details
382	402	TRANSMEM	Helical	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.86	0.001
	9.248	1
(flanking)	7.296	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

12

Strand

-1

Original gDNA sequence snippet

CCAAGGTCGGAACAAGGAAGCGATCTACCACTACAGAACAG

Altered gDNA sequence snippet

CCAAGGTCGGAACAAGGAAGTGATCTACCACTACAGAACAG

Original cDNA sequence snippet

CCAAGGTCGGAACAAGGAAGCGATCTACCACTACAGAACAG

Altered cDNA sequence snippet

CCAAGGTCGGAACAAGGAAGTGATCTACCACTACAGAACAG

Wildtype AA sequence

MNPFYFHAVN IILHCLVTLV LMYTCDKTVF KNRGLAFVTA LLFAVHPIHT EAVAGIVGRA
DVLACLLFLL AFLSYNRSLD QGCVGGSFPS TVSPFFLLLS LFLGTCAMLV KETGITVFGV
CLVYDLFSLS NKQDKSSNGA LCPRSPQQPG SPQPSSLPGH PHRENGKQQR FPHKGAWGGC
HSPLPPEPKS SGFPVSPRAV WSMMRFLTYS YLLAFNVWLL LAPVTLCYDW QVGSIPLVET
IWDMRNLATI FLAVVMALLS LHCLAAFKRL EHKEVLVGLL FLVFPFIPAS NLFFRVGFVV
AERVLYMPSM GYCILFVHGL SKLCTWLNRC GATTLIVSTV LLLLLFSWKT VKQNEIWLSR
ESLFRSGVQT LPHNAKVHYN YANFLKDQGR NKEAIYHYRT ALKLYPRHAS ALNNLGTLTR
DTAEAKMYYQ RALQLHPQHN RALFNLGNLL KSQEKKEEAI TLLKDSIKYG PEFADAYSSL
ASLLAEQERF KEAEEIYQTG IKNCPDSSDL HNNYGVFLVD TGLPEKAVAH YQQAIKLSPS
HHVAMVNLGR LYRSLGENSM AEEWYKRALQ VAHKAEILSP LGALYYNTGR YEEALQIYQE
AAALQPSQRE LRLALAQVLA VMGQTKEAEK MTNHIVSEET GCLECYRLLS AIYSKQENHD
KALDAIDKAL QLKPKDPKVI SELFFTKGNQ LREQNLLDKA FESYRVAVQL NPDQAQAWMN
MGGIQHIKGK YVSARAYYER ALQLVPDSKL LKENLAKLDR LEKRLQEVRE KDQT*

Mutated AA sequence

MNPFYFHAVN IILHCLVTLV LMYTCDKTVF KNRGLAFVTA LLFAVHPIHT EAVAGIVGRA
DVLACLLFLL AFLSYNRSLD QGCVGGSFPS TVSPFFLLLS LFLGTCAMLV KETGITVFGV
CLVYDLFSLS NKQDKSSNGA LCPRSPQQPG SPQPSSLPGH PHRENGKQQR FPHKGAWGGC
HSPLPPEPKS SGFPVSPRAV WSMMRFLTYS YLLAFNVWLL LAPVTLCYDW QVGSIPLVET
IWDMRNLATI FLAVVMALLS LHCLAAFKRL EHKEVLVGLL FLVFPFIPAS NLFFRVGFVV
AERVLYMPSM GYCILFVHGL SKLCTWLNRC GATTLIVSTV LLLLLFSWKT VKQNEIWLSR
ESLFRSGVQT LPHNAKVHYN YANFLKDQGR NKEVIYHYRT ALKLYPRHAS ALNNLGTLTR
DTAEAKMYYQ RALQLHPQHN RALFNLGNLL KSQEKKEEAI TLLKDSIKYG PEFADAYSSL
ASLLAEQERF KEAEEIYQTG IKNCPDSSDL HNNYGVFLVD TGLPEKAVAH YQQAIKLSPS
HHVAMVNLGR LYRSLGENSM AEEWYKRALQ VAHKAEILSP LGALYYNTGR YEEALQIYQE
AAALQPSQRE LRLALAQVLA VMGQTKEAEK MTNHIVSEET GCLECYRLLS AIYSKQENHD
KALDAIDKAL QLKPKDPKVI SELFFTKGNQ LREQNLLDKA FESYRVAVQL NPDQAQAWMN
MGGIQHIKGK YVSARAYYER ALQLVPDSKL LKENLAKLDR LEKRLQEVRE KDQT*

Position of stopcodon in wt / mu CDS

2325 / 2325

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

775 / 775

Position of stopcodon in wt / mu cDNA

2799 / 2799

Position of start ATG in wt / mu cDNA

475 / 475

Last intron/exon boundary

2658

Theoretical NMD boundary in CDS

2133

Length of CDS

2325

Coding sequence (CDS) position

1181

cDNA position

1655

gDNA position

212628

Chromosomal position

29572132

Speed

0.16 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

MutationT@ster 2025

Variant:

12:29572132G>A_3_ENST00000552618

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 193|7 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:29572132G>A (GRCh38)

Gene symbol

TMTC1

Gene constraints

LOEUF: 0.82, LOF (oe): 0.66, misssense (oe): 0.96, synonymous (oe): 1.04 ? (gnomAD)

Ensembl transcript ID

ENST00000552618.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1604+11275C>T
g.212628C>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs772670281
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	17	17

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.86	0.001
	9.248	1
(flanking)	7.296	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

CCAAGGTCGGAACAAGGAAGCGATCTACCACTACAGAACAG

Altered gDNA sequence snippet

CCAAGGTCGGAACAAGGAAGTGATCTACCACTACAGAACAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MVVTTSARGG GGDRTPSRRR GCGLAPAGAA ALLAGASCLC YGRSLQGEFV HDDVWAIVNN
PDVRPGAPLR WGIFTNDFWG KGMAENTSHK SYRPLCVLTF KLNIFLTGMN PFYFHAVNII
LHCLVTLVLM YTCDKTVFKN RGLAFVTALL FAVHPIHTEA VAGIVGRADV LACLLFLLAF
LSYNRSLDQG CVGGSFPSTV SPFFLLLSLF LGTCAMLVKE TGITVFGVCL VYDLFSLSNK
QDKSSNGALC PRSPQQPGSP QPSSLPGHPH RENGKQQRFP HKGAWGGCHS PLPPEPKSSG
FPVSPRAVWS MMRYLRASSN RNFLLTMRPF LKRAILVLSY VLVILYFRLW IMGGSMPLFS
EQDNPASFSP YILTRFLTYS YLLAFNVWLL LAPVTLCYDW QVGSIPLVET IWDMRNLATI
FLAVVMALLS LHCLAAFKRL EHKEVLVGLL FLVFPFIPAS NLFFRVGFVV AERVLYMPSM
GYCILFVHGL SKLCTWLNRC GATTLIVSTV LLLLLFSWKT VKQNEIWLSR ESLFRLYPRH
ASALNNLGTL TRDTAEAKMY YQRALQLHPQ HNRALFNLGN LLKSQEKKEE AITLLKDSIK
YGPEFADAYS SLASLLAEQE RFKEAEEIYQ TGIKNCPDSS DLHNNYGVFL VDTGLPEKAV
AHYQQAIKLS PSHHVAMVNL GRLYRSLGEN SMAEEWYKRA LQVAHKAEIL SPLGALYYNT
GRYEEALQIY QEAAALQPSQ RELRLALAQV LAVMGQTKEA EKMTNHIVSE ETGCLECYRL
LSAIYSKQEN HDKALDAIDK ALQLKPKDPK VISELFFTKG NQLREQNLLD KAFESYRVAV
QLNPDQAQAW MNMGGIQHIK GKYVSARAYY ERALQLVPDS KLLKENLAKL DRLEKRLQEV
REKDQT*

Mutated AA sequence

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

Position of start ATG in wt / mu cDNA

48 / 48

Last intron/exon boundary

2627

Theoretical NMD boundary in CDS

2529

Length of CDS

2721

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

212628

Chromosomal position

29572132

Speed

0.02 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