MutationT @ ster 2025

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 1782209 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 95|5 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr10:43114500T>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.24, LOF (oe): 0.16, misssense (oe): 0.81, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000355710.8

Genbank transcript ID

NM_020975 (exact from MANE), NM_001406743 (by similarity), NM_001406759 (by similarity), NM_001406760 (by similarity), NM_001406763 (by similarity), NM_001406771 (by similarity), NM_001406762 (by similarity), NM_001406761 (by similarity), NM_001406766 (by similarity), NM_001406767 (by similarity), NM_001406775 (by similarity), NM_001406777 (by similarity)

UniProt / AlphaMissense peptide

RET_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1900T>A
g.37437T>A

AA changes

AAE:	C634S	?
Score:	112

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		634	E	D	I	Q	D	P	L	C	D	E	L	C	R	T	V	I	A	A	A	V	L	F	S	F
mutated	not conserved	634	E	D	I	Q	D	P	L	C	D	E	L	S	R	T	V	I	A	A	A	V	L	F	S
Ptroglodytes	all identical	636	E	D	I	Q	D	P	L	C	D	E	L	C	R	T	V	I	A	A	A	V	L	F	S
Mmulatta	all identical	635	E	D	I	Q	D	P	L	C	D	E	L	C	R	T	V	I	A	A	A	V	L	F	S
Fcatus	all identical	658	E	D	S	Q	E	P	L	C	D	E	L	C	R	T	V	I	A	A	A	V	L	F	S
Mmusculus	all identical	636	E	D	S	Q	G	P	L	C	D	A	L	C	R	T	I	I	T	A	A	-	L	F	S
Ggallus	all identical	625	D	D	I	K	E	Q	F	C	D	E	V	C	K	T	V	I	A	G	A	V	L	L	S
Trubripes	all identical	631	E	D	I	K	E	T	I	C	D	D	M	C	K	T	I	I	A	T	A	L	L	L	S
Drerio	no homologue
Dmelanogaster	all identical	659		PRKRKNETEAEPLLGVRRGTPPNQP	L	Q	D	P	MLLGVLNVAGFE	C	D	R	S	C	M	FF	V	I	T	C	P	L	L	F	V
Celegans	no homologue
Xtropicalis	all identical	622	N	I	V	E	G	P	L	C	D	D	T	C	K	T	V	I	A	C	G	V	F	L	S

Protein features

Start (aa)	End (aa)	Feature	Details
29	635	TOPO_DOM	Extracellular	lost
29	707	CHAIN		lost
29	1114	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.118	0.974
	7.805	1
(flanking)	9.736	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

21

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

10

Strand

1

Original gDNA sequence snippet

ATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCC

Altered gDNA sequence snippet

ATCCACTGTGCGACGAGCTGAGCCGCACGGTGATCGCAGCC

Original cDNA sequence snippet

ATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCC

Altered cDNA sequence snippet

ATCCACTGTGCGACGAGCTGAGCCGCACGGTGATCGCAGCC

Wildtype AA sequence

MAKATSGAAG LRLLLLLLLP LLGKVALGLY FSRDAYWEKL YVDQAAGTPL LYVHALRDAP
EEVPSFRLGQ HLYGTYRTRL HENNWICIQE DTGLLYLNRS LDHSSWEKLS VRNRGFPLLT
VYLKVFLSPT SLREGECQWP GCARVYFSFF NTSFPACSSL KPRELCFPET RPSFRIRENR
PPGTFHQFRL LPVQFLCPNI SVAYRLLEGE GLPFRCAPDS LEVSTRWALD REQREKYELV
AVCTVHAGAR EEVVMVPFPV TVYDEDDSAP TFPAGVDTAS AVVEFKRKED TVVATLRVFD
ADVVPASGEL VRRYTSTLLP GDTWAQQTFR VEHWPNETSV QANGSFVRAT VHDYRLVLNR
NLSISENRTM QLAVLVNDSD FQGPGAGVLL LHFNVSVLPV SLHLPSTYSL SVSRRARRFA
QIGKVCVENC QAFSGINVQY KLHSSGANCS TLGVVTSAED TSGILFVNDT KALRRPKCAE
LHYMVVATDQ QTSRQAQAQL LVTVEGSYVA EEAGCPLSCA VSKRRLECEE CGGLGSPTGR
CEWRQGDGKG ITRNFSTCSP STKTCPDGHC DVVETQDINI CPQDCLRGSI VGGHEPGEPR
GIKAGYGTCN CFPEEEKCFC EPEDIQDPLC DELCRTVIAA AVLFSFIVSV LLSAFCIHCY
HKFAHKPPIS SAEMTFRRPA QAFPVSYSSS GARRPSLDSM ENQVSVDAFK ILEDPKWEFP
RKNLVLGKTL GEGEFGKVVK ATAFHLKGRA GYTTVAVKML KENASPSELR DLLSEFNVLK
QVNHPHVIKL YGACSQDGPL LLIVEYAKYG SLRGFLRESR KVGPGYLGSG GSRNSSSLDH
PDERALTMGD LISFAWQISQ GMQYLAEMKL VHRDLAARNI LVAEGRKMKI SDFGLSRDVY
EEDSYVKRSQ GRIPVKWMAI ESLFDHIYTT QSDVWSFGVL LWEIVTLGGN PYPGIPPERL
FNLLKTGHRM ERPDNCSEEM YRLMLQCWKQ EPDKRPVFAD ISKDLEKMMV KRRDYLDLAA
STPSDSLIYD DGLSEEETPL VDCNNAPLPR ALPSTWIENK LYGMSDPNWP GESPVPLTRA
DGTNTGFPRY PNDSVYANWM LSPSAAKLMD TFDS*

Mutated AA sequence

MAKATSGAAG LRLLLLLLLP LLGKVALGLY FSRDAYWEKL YVDQAAGTPL LYVHALRDAP
EEVPSFRLGQ HLYGTYRTRL HENNWICIQE DTGLLYLNRS LDHSSWEKLS VRNRGFPLLT
VYLKVFLSPT SLREGECQWP GCARVYFSFF NTSFPACSSL KPRELCFPET RPSFRIRENR
PPGTFHQFRL LPVQFLCPNI SVAYRLLEGE GLPFRCAPDS LEVSTRWALD REQREKYELV
AVCTVHAGAR EEVVMVPFPV TVYDEDDSAP TFPAGVDTAS AVVEFKRKED TVVATLRVFD
ADVVPASGEL VRRYTSTLLP GDTWAQQTFR VEHWPNETSV QANGSFVRAT VHDYRLVLNR
NLSISENRTM QLAVLVNDSD FQGPGAGVLL LHFNVSVLPV SLHLPSTYSL SVSRRARRFA
QIGKVCVENC QAFSGINVQY KLHSSGANCS TLGVVTSAED TSGILFVNDT KALRRPKCAE
LHYMVVATDQ QTSRQAQAQL LVTVEGSYVA EEAGCPLSCA VSKRRLECEE CGGLGSPTGR
CEWRQGDGKG ITRNFSTCSP STKTCPDGHC DVVETQDINI CPQDCLRGSI VGGHEPGEPR
GIKAGYGTCN CFPEEEKCFC EPEDIQDPLC DELSRTVIAA AVLFSFIVSV LLSAFCIHCY
HKFAHKPPIS SAEMTFRRPA QAFPVSYSSS GARRPSLDSM ENQVSVDAFK ILEDPKWEFP
RKNLVLGKTL GEGEFGKVVK ATAFHLKGRA GYTTVAVKML KENASPSELR DLLSEFNVLK
QVNHPHVIKL YGACSQDGPL LLIVEYAKYG SLRGFLRESR KVGPGYLGSG GSRNSSSLDH
PDERALTMGD LISFAWQISQ GMQYLAEMKL VHRDLAARNI LVAEGRKMKI SDFGLSRDVY
EEDSYVKRSQ GRIPVKWMAI ESLFDHIYTT QSDVWSFGVL LWEIVTLGGN PYPGIPPERL
FNLLKTGHRM ERPDNCSEEM YRLMLQCWKQ EPDKRPVFAD ISKDLEKMMV KRRDYLDLAA
STPSDSLIYD DGLSEEETPL VDCNNAPLPR ALPSTWIENK LYGMSDPNWP GESPVPLTRA
DGTNTGFPRY PNDSVYANWM LSPSAAKLMD TFDS*

Position of stopcodon in wt / mu CDS

3345 / 3345

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

1115 / 1115

Position of stopcodon in wt / mu cDNA

3535 / 3535

Position of start ATG in wt / mu cDNA

191 / 191

Last intron/exon boundary

3377

Theoretical NMD boundary in CDS

3136

Length of CDS

3345

Coding sequence (CDS) position

1900

cDNA position

2090

gDNA position

37437

Chromosomal position

43114500

Speed

0.10 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

MutationT@ster 2025

Variant:

10:43114500T>A_2_ENST00000340058

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 1782209 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 97|3 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr10:43114500T>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.21, LOF (oe): 0.14, misssense (oe): 0.81, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000340058.6

Genbank transcript ID

NM_020630 (by similarity), NM_001406744 (by similarity), NM_001406773 (by similarity), NM_001406764 (by similarity), NM_001406770 (by similarity), NM_001406778 (by similarity), NM_001406776 (by similarity), NM_001406784 (by similarity), NM_001355216 (by similarity)

UniProt / AlphaMissense peptide

RET_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1900T>A
g.37437T>A

AA changes

AAE:	C634S	?
Score:	112

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		634	E	D	I	Q	D	P	L	C	D	E	L	C	R	T	V	I	A	A	A	V	L	F	S	F
mutated	not conserved	634	E	D	I	Q	D	P	L	C	D	E	L	S	R	T	V	I	A	A	A	V	L	F	S
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
29	635	TOPO_DOM	Extracellular	lost
29	707	CHAIN		lost
29	1114	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.118	0.974
	7.805	1
(flanking)	9.736	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

21

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

10

Strand

1

Original gDNA sequence snippet

ATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCC

Altered gDNA sequence snippet

ATCCACTGTGCGACGAGCTGAGCCGCACGGTGATCGCAGCC

Original cDNA sequence snippet

ATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCC

Altered cDNA sequence snippet

ATCCACTGTGCGACGAGCTGAGCCGCACGGTGATCGCAGCC

Wildtype AA sequence

MAKATSGAAG LRLLLLLLLP LLGKVALGLY FSRDAYWEKL YVDQAAGTPL LYVHALRDAP
EEVPSFRLGQ HLYGTYRTRL HENNWICIQE DTGLLYLNRS LDHSSWEKLS VRNRGFPLLT
VYLKVFLSPT SLREGECQWP GCARVYFSFF NTSFPACSSL KPRELCFPET RPSFRIRENR
PPGTFHQFRL LPVQFLCPNI SVAYRLLEGE GLPFRCAPDS LEVSTRWALD REQREKYELV
AVCTVHAGAR EEVVMVPFPV TVYDEDDSAP TFPAGVDTAS AVVEFKRKED TVVATLRVFD
ADVVPASGEL VRRYTSTLLP GDTWAQQTFR VEHWPNETSV QANGSFVRAT VHDYRLVLNR
NLSISENRTM QLAVLVNDSD FQGPGAGVLL LHFNVSVLPV SLHLPSTYSL SVSRRARRFA
QIGKVCVENC QAFSGINVQY KLHSSGANCS TLGVVTSAED TSGILFVNDT KALRRPKCAE
LHYMVVATDQ QTSRQAQAQL LVTVEGSYVA EEAGCPLSCA VSKRRLECEE CGGLGSPTGR
CEWRQGDGKG ITRNFSTCSP STKTCPDGHC DVVETQDINI CPQDCLRGSI VGGHEPGEPR
GIKAGYGTCN CFPEEEKCFC EPEDIQDPLC DELCRTVIAA AVLFSFIVSV LLSAFCIHCY
HKFAHKPPIS SAEMTFRRPA QAFPVSYSSS GARRPSLDSM ENQVSVDAFK ILEDPKWEFP
RKNLVLGKTL GEGEFGKVVK ATAFHLKGRA GYTTVAVKML KENASPSELR DLLSEFNVLK
QVNHPHVIKL YGACSQDGPL LLIVEYAKYG SLRGFLRESR KVGPGYLGSG GSRNSSSLDH
PDERALTMGD LISFAWQISQ GMQYLAEMKL VHRDLAARNI LVAEGRKMKI SDFGLSRDVY
EEDSYVKRSQ GRIPVKWMAI ESLFDHIYTT QSDVWSFGVL LWEIVTLGGN PYPGIPPERL
FNLLKTGHRM ERPDNCSEEM YRLMLQCWKQ EPDKRPVFAD ISKDLEKMMV KRRDYLDLAA
STPSDSLIYD DGLSEEETPL VDCNNAPLPR ALPSTWIENK LYGRISHAFT RF*

Mutated AA sequence

MAKATSGAAG LRLLLLLLLP LLGKVALGLY FSRDAYWEKL YVDQAAGTPL LYVHALRDAP
EEVPSFRLGQ HLYGTYRTRL HENNWICIQE DTGLLYLNRS LDHSSWEKLS VRNRGFPLLT
VYLKVFLSPT SLREGECQWP GCARVYFSFF NTSFPACSSL KPRELCFPET RPSFRIRENR
PPGTFHQFRL LPVQFLCPNI SVAYRLLEGE GLPFRCAPDS LEVSTRWALD REQREKYELV
AVCTVHAGAR EEVVMVPFPV TVYDEDDSAP TFPAGVDTAS AVVEFKRKED TVVATLRVFD
ADVVPASGEL VRRYTSTLLP GDTWAQQTFR VEHWPNETSV QANGSFVRAT VHDYRLVLNR
NLSISENRTM QLAVLVNDSD FQGPGAGVLL LHFNVSVLPV SLHLPSTYSL SVSRRARRFA
QIGKVCVENC QAFSGINVQY KLHSSGANCS TLGVVTSAED TSGILFVNDT KALRRPKCAE
LHYMVVATDQ QTSRQAQAQL LVTVEGSYVA EEAGCPLSCA VSKRRLECEE CGGLGSPTGR
CEWRQGDGKG ITRNFSTCSP STKTCPDGHC DVVETQDINI CPQDCLRGSI VGGHEPGEPR
GIKAGYGTCN CFPEEEKCFC EPEDIQDPLC DELSRTVIAA AVLFSFIVSV LLSAFCIHCY
HKFAHKPPIS SAEMTFRRPA QAFPVSYSSS GARRPSLDSM ENQVSVDAFK ILEDPKWEFP
RKNLVLGKTL GEGEFGKVVK ATAFHLKGRA GYTTVAVKML KENASPSELR DLLSEFNVLK
QVNHPHVIKL YGACSQDGPL LLIVEYAKYG SLRGFLRESR KVGPGYLGSG GSRNSSSLDH
PDERALTMGD LISFAWQISQ GMQYLAEMKL VHRDLAARNI LVAEGRKMKI SDFGLSRDVY
EEDSYVKRSQ GRIPVKWMAI ESLFDHIYTT QSDVWSFGVL LWEIVTLGGN PYPGIPPERL
FNLLKTGHRM ERPDNCSEEM YRLMLQCWKQ EPDKRPVFAD ISKDLEKMMV KRRDYLDLAA
STPSDSLIYD DGLSEEETPL VDCNNAPLPR ALPSTWIENK LYGRISHAFT RF*

Position of stopcodon in wt / mu CDS

3219 / 3219

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

1073 / 1073

Position of stopcodon in wt / mu cDNA

3409 / 3409

Position of start ATG in wt / mu cDNA

191 / 191

Last intron/exon boundary

3229

Theoretical NMD boundary in CDS

2988

Length of CDS

3219

Coding sequence (CDS) position

1900

cDNA position

2090

gDNA position

37437

Chromosomal position

43114500

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

MutationT@ster 2025

Variant:

10:43114500T>A_4_ENST00000615310

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 1782209 (pathogenic)

Model: simple_aae
Tree vote: 100|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr10:43114500T>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.24, LOF (oe): 0.15, misssense (oe): 0.82, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000615310.5

Genbank transcript ID

NM_001406772 (by similarity), NM_001406769 (by similarity), NM_001406782 (by similarity), NM_001406780 (by similarity), NM_001406779 (by similarity), NM_001406781 (by similarity), NM_001406787 (by similarity), NM_001406785 (by similarity), NM_001406774 (by similarity), NM_001406786 (by similarity), NM_001406783 (by similarity), NM_001406790 (by similarity), NM_001406788 (by similarity), NM_001406789 (by similarity), NM_001406791 (by similarity), NM_001406794 (by similarity), NM_001406792 (by similarity), NM_001406793 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1504T>A
g.37437T>A

AA changes

AAE:	C502S	?
Score:	112

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		502	E	D	I	Q	D	P	L	C	D	E	L	C	R	T	V	I	A	A	A	V	L	F	S	F
mutated	not conserved	502	E	D	I	Q	D	P	L	C	D	E	L	S	R	T	V	I	A	A	A	V	L	F	S
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

	PhyloP	PhastCons
(flanking)	0.118	0.974
	7.805	1
(flanking)	9.736	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

21

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

10

Strand

1

Original gDNA sequence snippet

ATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCC

Altered gDNA sequence snippet

ATCCACTGTGCGACGAGCTGAGCCGCACGGTGATCGCAGCC

Original cDNA sequence snippet

ATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCC

Altered cDNA sequence snippet

ATCCACTGTGCGACGAGCTGAGCCGCACGGTGATCGCAGCC

Wildtype AA sequence

MAKATSGAAG LRLLLLLLLP LLGKVALGLY FSRDAYWEKL YVDQAAGTPL LYVHALRDAP
EEVPSFRLGQ HLYGTYRTRL HENNWICIQE DTGLLYLNRS LDHSSWEKLS VRNRGFPLLT
VYLKVFLSPT SLREGECQWP GCARVYFSFF NTSFPACSSL KPRELCFPET RPSFRIRENR
PPGTFHQFRL LPVQFLCPNI SVAYRLLEGE GLPFRCAPDS LEVSTRWALD REQREKYELV
AVCTVHAGAR EEVVMVPFPV TVYDEDDSAP TFPAGVDTAS AVVEFKRKEI GKVCVENCQA
FSGINVQYKL HSSGANCSTL GVVTSAEDTS GILFVNDTKA LRRPKCAELH YMVVATDQQT
SRQAQAQLLV TVEGSYVAEE AGCPLSCAVS KRRLECEECG GLGSPTGRCE WRQGDGKGIT
RNFSTCSPST KTCPDGHCDV VETQDINICP QDCLRGSIVG GHEPGEPRGI KAGYGTCNCF
PEEEKCFCEP EDIQDPLCDE LCRTVIAAAV LFSFIVSVLL SAFCIHCYHK FAHKPPISSA
EMTFRRPAQA FPVSYSSSGA RRPSLDSMEN QVSVDAFKIL EDPKWEFPRK NLVLGKTLGE
GEFGKVVKAT AFHLKGRAGY TTVAVKMLKE NASPSELRDL LSEFNVLKQV NHPHVIKLYG
ACSQDGPLLL IVEYAKYGSL RGFLRESRKV GPGYLGSGGS RNSSSLDHPD ERALTMGDLI
SFAWQISQGM QYLAEMKLVH RDLAARNILV AEGRKMKISD FGLSRDVYEE DSYVKRSQGR
IPVKWMAIES LFDHIYTTQS DVWSFGVLLW EIVTLGGNPY PGIPPERLFN LLKTGHRMER
PDNCSEEMYR LMLQCWKQEP DKRPVFADIS KDLEKMMVKR RDYLDLAAST PSDSLIYDDG
LSEEETPLVD CNNAPLPRAL PSTWIENKLY GRISHAFTRF *

Mutated AA sequence

MAKATSGAAG LRLLLLLLLP LLGKVALGLY FSRDAYWEKL YVDQAAGTPL LYVHALRDAP
EEVPSFRLGQ HLYGTYRTRL HENNWICIQE DTGLLYLNRS LDHSSWEKLS VRNRGFPLLT
VYLKVFLSPT SLREGECQWP GCARVYFSFF NTSFPACSSL KPRELCFPET RPSFRIRENR
PPGTFHQFRL LPVQFLCPNI SVAYRLLEGE GLPFRCAPDS LEVSTRWALD REQREKYELV
AVCTVHAGAR EEVVMVPFPV TVYDEDDSAP TFPAGVDTAS AVVEFKRKEI GKVCVENCQA
FSGINVQYKL HSSGANCSTL GVVTSAEDTS GILFVNDTKA LRRPKCAELH YMVVATDQQT
SRQAQAQLLV TVEGSYVAEE AGCPLSCAVS KRRLECEECG GLGSPTGRCE WRQGDGKGIT
RNFSTCSPST KTCPDGHCDV VETQDINICP QDCLRGSIVG GHEPGEPRGI KAGYGTCNCF
PEEEKCFCEP EDIQDPLCDE LSRTVIAAAV LFSFIVSVLL SAFCIHCYHK FAHKPPISSA
EMTFRRPAQA FPVSYSSSGA RRPSLDSMEN QVSVDAFKIL EDPKWEFPRK NLVLGKTLGE
GEFGKVVKAT AFHLKGRAGY TTVAVKMLKE NASPSELRDL LSEFNVLKQV NHPHVIKLYG
ACSQDGPLLL IVEYAKYGSL RGFLRESRKV GPGYLGSGGS RNSSSLDHPD ERALTMGDLI
SFAWQISQGM QYLAEMKLVH RDLAARNILV AEGRKMKISD FGLSRDVYEE DSYVKRSQGR
IPVKWMAIES LFDHIYTTQS DVWSFGVLLW EIVTLGGNPY PGIPPERLFN LLKTGHRMER
PDNCSEEMYR LMLQCWKQEP DKRPVFADIS KDLEKMMVKR RDYLDLAAST PSDSLIYDDG
LSEEETPLVD CNNAPLPRAL PSTWIENKLY GRISHAFTRF *

Position of stopcodon in wt / mu CDS

2823 / 2823

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

941 / 941

Position of stopcodon in wt / mu cDNA

2996 / 2996

Position of start ATG in wt / mu cDNA

174 / 174

Last intron/exon boundary

2816

Theoretical NMD boundary in CDS

2592

Length of CDS

2823

Coding sequence (CDS) position

1504

cDNA position

1677

gDNA position

37437

Chromosomal position

43114500

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

MutationT@ster 2025

Variant:

10:43114500T>A_1_ENST00000713926

Prediction:

DeleteriousPermalink

Summary:

Known disease mutation: ClinVar ID 1782209 (pathogenic)

Model: without_aae
Tree vote: 196|4 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr10:43114500T>A (GRCh38)

Gene symbol

Gene constraints

no data

Ensembl transcript ID

ENST00000713926.1

Genbank transcript ID

NM_001406765 (by similarity), NM_001406768 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1751-115T>A
g.37437T>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Hereditary cancer-predisposing syndrome

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.118	0.974
	7.805	1
(flanking)	9.736	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

10

Strand

1

Original gDNA sequence snippet

ATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCC

Altered gDNA sequence snippet

ATCCACTGTGCGACGAGCTGAGCCGCACGGTGATCGCAGCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAKATSGAAG LRLLLLLLLP LLGKVALGLY FSRDAYWEKL YVDQAAGTPL LYVHALRDAP
EEVPSFRLGQ HLYGTYRTRL HENNWICIQE DTGLLYLNRS LDHSSWEKLS VRTCSSLKPR
ELCFPETRPS FRIRENRPPG TFHQFRLLPV QFLCPNISVA YRLLEGEGLP FRCAPDSLEV
STRWALDREQ REKYELVAVC TVHAGAREEV VMVPFPVTVY DEDDSAPTFP AGVDTASAVV
EFKRKEDTVV ATLRVFDADV VPASGELVRR YTSTLLPGDT WAQQTFRVEH WPNETSVQAN
GSFVRATVHD YRLVLNRNLS ISENRTMQLA VLVNDSDFQG PGAGVLLLHF NVSVLPVSLH
LPSTYSLSVS RRARRFAQIG KVCVENCQAF SGINVQYKLH SSGANCSTLG VVTSAEDTSG
ILFVNDTKAL RRPKCAELHY MVVATDQQTS RQAQAQLLVT VEGSYVAEEA GCPLSCAVSK
RRLECEECGG LGSPTGRCEW RQGDGKGITR NFSTCSPSTK TCPDGHCDVV ETQDINICPQ
DCLRGSIVGG HEPGEPRGIK AGYGTCNCFP EEEKCFCEPE DIQAEMTFRR PAQAFPVSYS
SSGARRPSLD SMENQVSVDA FKILEDPKWE FPRKNLVLGK TLGEGEFGKV VKATAFHLKG
RAGYTTVAVK MLKENASPSE LRDLLSEFNV LKQVNHPHVI KLYGACSQDG PLLLIVEYAK
YGSLRGFLRE SRKVGPGYLG SGGSRNSSSL DHPDERALTM GDLISFAWQI SQGMQYLAEM
KLVHRDLAAR NILVAEGRKM KISDFGLSRD VYEEDSYVKR SQGRIPVKWM AIESLFDHIY
TTQSDVWSFG VLLWEIVTLG GNPYPGIPPE RLFNLLKTGH RMERPDNCSE EMYRLMLQCW
KQEPDKRPVF ADISKDLEKM MVKRRDYLDL AASTPSDSLI YDDGLSEEET PLVDCNNAPL
PRALPSTWIE NKLYGRISHA FTRF*

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

192 / 192

Last intron/exon boundary

2966

Theoretical NMD boundary in CDS

2724

Length of CDS

2955

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

37437

Chromosomal position

43114500

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