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: ENST00000713926
Querying Taster for transcript #2: ENST00000340058
Querying Taster for transcript #3: ENST00000355710
Querying Taster for transcript #4: ENST00000615310
MT speed 0.35 s - this script 2.738163 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000340058	RET	Undetermined	50\|50	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000615310	RET	Deleterious	55\|45	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000355710(MANE Select)	RET	Benign	40\|60	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000713926	RET	Benign	44\|56	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

10:43114698A>C_2_ENST00000340058

Back to summary table

Prediction:

UndeterminedPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 50|50 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:43114698A>C (GRCh38)

Gene symbol

RET

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.2098A>C
g.37635A>C

AA changes

AAE:	M700L	?
Score:	15

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		700	S	S	G	A	R	R	P	S	L	D	S	M	E	N	Q	V	S	V	D	A	F	K	I	L
mutated	all conserved	700	S	S	G	A	R	R	P	S	L	D	S	L	E	N	Q	V	S	V	D	A	F	K	I
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	707	CHAIN		lost
29	1114	CHAIN		lost
658	1114	TOPO_DOM	Cytoplasmic	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.389	0.991
	1.94	0.999
(flanking)	4.785	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

10

Strand

1

Original gDNA sequence snippet

GCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTG

Altered gDNA sequence snippet

GCCGGCCCTCGCTGGACTCCCTGGAGAACCAGGTCTCCGTG

Original cDNA sequence snippet

GCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTG

Altered cDNA sequence snippet

GCCGGCCCTCGCTGGACTCCCTGGAGAACCAGGTCTCCGTG

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 DELCRTVIAA AVLFSFIVSV LLSAFCIHCY
HKFAHKPPIS SAEMTFRRPA QAFPVSYSSS GARRPSLDSL 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

2098

cDNA position

2288

gDNA position

37635

Chromosomal position

43114698

Speed

0.09 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:

10:43114698A>C_4_ENST00000615310

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 55|45 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:43114698A>C (GRCh38)

Gene symbol

RET

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.1702A>C
g.37635A>C

AA changes

AAE:	M568L	?
Score:	15

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		568	S	S	G	A	R	R	P	S	L	D	S	M	E	N	Q	V	S	V	D	A	F	K	I	L
mutated	all conserved	568	S	S	G	A	R	R	P	S	L	D	S	L	E	N	Q	V	S	V	D	A	F	K	I
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)	0.389	0.991
	1.94	0.999
(flanking)	4.785	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

10

Strand

1

Original gDNA sequence snippet

GCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTG

Altered gDNA sequence snippet

GCCGGCCCTCGCTGGACTCCCTGGAGAACCAGGTCTCCGTG

Original cDNA sequence snippet

GCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTG

Altered cDNA sequence snippet

GCCGGCCCTCGCTGGACTCCCTGGAGAACCAGGTCTCCGTG

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 LCRTVIAAAV LFSFIVSVLL SAFCIHCYHK FAHKPPISSA
EMTFRRPAQA FPVSYSSSGA RRPSLDSLEN 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

1702

cDNA position

1875

gDNA position

37635

Chromosomal position

43114698

Speed

0.09 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:

10:43114698A>C_3_ENST00000355710

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 40|60 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:43114698A>C (GRCh38)

Gene symbol

RET

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.2098A>C
g.37635A>C

AA changes

AAE:	M700L	?
Score:	15

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		700	S	S	G	A	R	R	P	S	L	D	S	M	E	N	Q	V	S	V	D	A	F	K	I	L
mutated	all conserved	700	S	S	G	A	R	R	P	S	L	D	S	L	E	N	Q	V	S	V	D	A	F	K	I
Ptroglodytes	all identical	702	S	S	G	A	R	R	P	S	L	D	S	M	E	N	Q	V	S	V	D	A	F	K	I
Mmulatta	all identical	701	S	S	G	A	R	R	P	S	L	D	S	M	E	N	Q	V	S	V	D	A	F	K	I
Fcatus	all identical	724	S	S	G	A	R	R	P	S	M	D	S	M	E	N	Q	V	S	V	D	A	F	K	I
Mmusculus	not conserved	701	S	S	G	T	R	R	P	S	L	D	S	T	E	N	Q	V	P	V	D	S	F	K	I
Ggallus	all identical	691	S	T	N	V	R	R	P	S	L	D	S	M	E	N	Q	V	S	V	D	T	F	K	I
Trubripes	all conserved	695	A	N	N	L	R	R	G	S	Q	E	S	I	E	T	-	-	-	-	D	T	F	K	I
Drerio	no homologue
Dmelanogaster	not conserved	762	G	D	F	A	L	M	P	L	Q	S	G	F	R	F	E	S	G	-	-
Celegans	no homologue
Xtropicalis	all identical	687	S	N	N	A	R	R	P	S	L	D	S	M	E	N	Q	V	S	V	D	T	F	K	I

Protein features

Start (aa)	End (aa)	Feature	Details
29	707	CHAIN		lost
29	1114	CHAIN		lost
658	1114	TOPO_DOM	Cytoplasmic	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.389	0.991
	1.94	0.999
(flanking)	4.785	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

10

Strand

1

Original gDNA sequence snippet

GCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTG

Altered gDNA sequence snippet

GCCGGCCCTCGCTGGACTCCCTGGAGAACCAGGTCTCCGTG

Original cDNA sequence snippet

GCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTG

Altered cDNA sequence snippet

GCCGGCCCTCGCTGGACTCCCTGGAGAACCAGGTCTCCGTG

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 DELCRTVIAA AVLFSFIVSV LLSAFCIHCY
HKFAHKPPIS SAEMTFRRPA QAFPVSYSSS GARRPSLDSL 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

2098

cDNA position

2288

gDNA position

37635

Chromosomal position

43114698

Speed

0.08 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

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MutationT@ster 2025

Variant:

10:43114698A>C_1_ENST00000713926

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 44|56 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr10:43114698A>C (GRCh38)

Gene symbol

RET

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

CDS

DNA changes

c.1834A>C
g.37635A>C

AA changes

AAE:	M612L	?
Score:	15

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		612	S	S	G	A	R	R	P	S	L	D	S	M	E	N	Q	V	S	V	D	A	F	K	I	L
mutated	all conserved	612	S	S	G	A	R	R	P	S	L	D	S	L	E	N	Q	V	S	V	D	A	F	K	I
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)	0.389	0.991
	1.94	0.999
(flanking)	4.785	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

10

Strand

1

Original gDNA sequence snippet

GCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTG

Altered gDNA sequence snippet

GCCGGCCCTCGCTGGACTCCCTGGAGAACCAGGTCTCCGTG

Original cDNA sequence snippet

GCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTG

Altered cDNA sequence snippet

GCCGGCCCTCGCTGGACTCCCTGGAGAACCAGGTCTCCGTG

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

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 SLENQVSVDA 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*

Position of stopcodon in wt / mu CDS

2955 / 2955

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

985 / 985

Position of stopcodon in wt / mu cDNA

3146 / 3146

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

1834

cDNA position

2025

gDNA position

37635

Chromosomal position

43114698

Speed

0.09 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

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