MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000700753
Querying Taster for transcript #2: ENST00000380358
Querying Taster for transcript #3: ENST00000330494
Querying Taster for transcript #4: ENST00000358181
MT speed 0.24 s - this script 2.67562 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000700753	CHD3	Deleterious	59\|41	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000330494(MANE Select)	CHD3	Deleterious	64\|36	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000358181	CHD3	Deleterious	75\|25	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000380358	CHD3	Deleterious	78\|22	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

17:7893853G>T_1_ENST00000700753

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 59|41 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:7893853G>T (GRCh38)

Gene symbol

CHD3

Gene constraints

no data

Ensembl transcript ID

ENST00000700753.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1019G>T
g.9058G>T

AA changes

AAE:	R340L	?
Score:	102

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs139173826
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		340	R	R	S	K	S	P	R	V	P	D	G	R	K	K	L	R	G	K	K	M	A	P	L	K
mutated	not conserved	340	R	R	S	K	S	P	R	V	P	D	G	L	K	K	L	R	G	K	K	M	A	P	L
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)	2.39	0.979
	2.179	0.997
(flanking)	0.22	0.994

?

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

17

Strand

1

Original gDNA sequence snippet

CCCCCGAGTGCCTGATGGACGCAAGAAGCTTCGGGGAAAGA

Altered gDNA sequence snippet

CCCCCGAGTGCCTGATGGACTCAAGAAGCTTCGGGGAAAGA

Original cDNA sequence snippet

CCCCCGAGTGCCTGATGGACGCAAGAAGCTTCGGGGAAAGA

Altered cDNA sequence snippet

CCCCCGAGTGCCTGATGGACTCAAGAAGCTTCGGGGAAAGA

Wildtype AA sequence

MASPLRDEEE EEEEMVVSEE EEEEEEEGDE EEEEEVEAAD EDDEEDDDEG VLGRGPGHDR
GRDRHSPPGC HLFPPPPPPP PPLPPPPPPP PPDKDDIRLL PSALGVKKRK RGPKKQKENK
PGKPRKRKKR DSEEEFGSER DEYREKSESG GSEYGTGPGR KRRRKHREKK EKKTKRRKKG
EGDGGQKQVE QKSSATLLLT WGLEDVEHVF SEEDYHTLTN YKAFSQFMRP LIAKKNPKIP
MSKMMTILGA KWREFSANNP FKGSAAAVAA AAAAAAAAVA EQVSAAVSSA TPIAPSGPPA
LPPPPAADIQ PPPIRRAKTK EGKGPGHKRR SKSPRVPDGR KKLRGKKMAP LKIKLGLLGG
KRKKGGSYVF QSDEGPEPEA EESDLDSGSV HSASGRPDGP VRTKKLKRGR PGRKKKKVLG
CPAVAGEEEV DGYETDHQDY CEVCQQGGEI ILCDTCPRAY HLVCLDPELD RAPEGKWSCP
HCEKEGVQWE AKEEEEEYEE EGEEEGEKEE EDDHMEYCRV CKDGGELLCC DACISSYHIH
CLNPPLPDIP NGEWLCPRCT CPVLKGRVQK ILHWRWGEPP VAVPAPQQAD GNPDVPPPRP
LQGRSEREFF VKWVGLSYWH CSWAKELQLE IFHLVMYRNY QRKNDMDEPP PLDYGSGEDD
GKSDKRKVKD PHYAEMEEKY YRFGIKPEWM TVHRIINHSV DKKGNYHYLV KWRDLPYDQS
TWEEDEMNIP EYEEHKQSYW RHRELIMGED PAQPRKYKKK KKELQGDGPP SSPTNDPTVK
YETQPRFITA TGGTLHMYQL EGLNWLRFSW AQGTDTILAD EMGLGKTIQT IVFLYSLYKE
GHTKGPFLVS APLSTIINWE REFQMWAPKF YVVTYTGDKD SRAIIRENEF SFEDNAIKGG
KKAFKMKREA QVKFHVLLTS YELITIDQAA LGSIRWACLV VDEAHRLKNN QSKFFRVLNG
YKIDHKLLLT GTPLQNNLEE LFHLLNFLTP ERFNNLEGFL EEFADISKED QIKKLHDLLG
PHMLRRLKAD VFKNMPAKTE LIVRVELSPM QKKYYKYILT RNFEALNSRG GGNQVSLLNI
MMDLKKCCNH PYLFPVAAME SPKLPSGAYE GGALIKSSGK LMLLQKMLRK LKEQGHRVLI
FSQMTKMLDL LEDFLDYEGY KYERIDGGIT GALRQEAIDR FNAPGAQQFC FLLSTRAGGL
GINLATADTV IIFDSDWNPH NDIQAFSRAH RIGQANKVMI YRFVTRASVE ERITQVAKRK
MMLTHLVVRP GLGSKAGSMS KQELDDILKF GTEELFKDEN EGENKEEDSS VIHYDNEAIA
RLLDRNQDAT EDTDVQNMNE YLSSFKVAQY VVREEDKIEE IEREIIKQEE NVDPDYWEKL
LRHHYEQQQE DLARNLGKGK RVRKQVNYND AAQEDQDNQS EYSVGSEEED EDFDERPEGR
RQSKRQLRNE KDKPLPPLLA RVGGNIEVLG FNTRQRKAFL NAVMRWGMPP QDAFTTQWLV
RDLRGKTEKE FKAYVSLFMR HLCEPGADGS ETFADGVPRE GLSRQQVLTR IGVMSLVKKK
VQEFEHINGR WSMPELMPDP SADSKRSSRA SSPTKTSPTT PEASATNSPC TSKPATPAPS
EKGEGIRTPL EKEEAENQEE KPEKNSRIGE KMETEADAPS PAPSLGERLE PRKIPLEDEV
PGVPGEMEPE PGYRGDREKS ATESTPGERG EEKPLDGQEH RERPEGETGD LGKREDVKGD
RELRPGPRDE PRSNGRREEK TEKPRFMFNI ADGGFTELHT LWQNEERAAI SSGKLNEIWH
RRHDYWLLAG IVLHGYARWQ DIQNDAQFAI INEPFKTEAN KGNFLEMKNK FLARRFKLLE
QALVIEEQLR RAAYLNLSQE PAHPAMALHA RFAEAECLAE SHQHLSKESL AGNKPANAVL
HKGKGRGGPA RGRAHNAASE PAGGVAERHE GGRDPPASHA VPNTPHRSPP SDVRAQHPQP
AGQQGHGASP HTGLPAGSLR YTSGVRGGLQ RRTRRGPGRR RRQLQPDACR VLHHSRHQRP
SSACEEGEGN GGGIGVRRAG SEGAPSRGGD LYRRLTGSQA CPSPRPRPRG RPPAQALGPA
ASPPPSPPLG PSLG*

Mutated AA sequence

MASPLRDEEE EEEEMVVSEE EEEEEEEGDE EEEEEVEAAD EDDEEDDDEG VLGRGPGHDR
GRDRHSPPGC HLFPPPPPPP PPLPPPPPPP PPDKDDIRLL PSALGVKKRK RGPKKQKENK
PGKPRKRKKR DSEEEFGSER DEYREKSESG GSEYGTGPGR KRRRKHREKK EKKTKRRKKG
EGDGGQKQVE QKSSATLLLT WGLEDVEHVF SEEDYHTLTN YKAFSQFMRP LIAKKNPKIP
MSKMMTILGA KWREFSANNP FKGSAAAVAA AAAAAAAAVA EQVSAAVSSA TPIAPSGPPA
LPPPPAADIQ PPPIRRAKTK EGKGPGHKRR SKSPRVPDGL KKLRGKKMAP LKIKLGLLGG
KRKKGGSYVF QSDEGPEPEA EESDLDSGSV HSASGRPDGP VRTKKLKRGR PGRKKKKVLG
CPAVAGEEEV DGYETDHQDY CEVCQQGGEI ILCDTCPRAY HLVCLDPELD RAPEGKWSCP
HCEKEGVQWE AKEEEEEYEE EGEEEGEKEE EDDHMEYCRV CKDGGELLCC DACISSYHIH
CLNPPLPDIP NGEWLCPRCT CPVLKGRVQK ILHWRWGEPP VAVPAPQQAD GNPDVPPPRP
LQGRSEREFF VKWVGLSYWH CSWAKELQLE IFHLVMYRNY QRKNDMDEPP PLDYGSGEDD
GKSDKRKVKD PHYAEMEEKY YRFGIKPEWM TVHRIINHSV DKKGNYHYLV KWRDLPYDQS
TWEEDEMNIP EYEEHKQSYW RHRELIMGED PAQPRKYKKK KKELQGDGPP SSPTNDPTVK
YETQPRFITA TGGTLHMYQL EGLNWLRFSW AQGTDTILAD EMGLGKTIQT IVFLYSLYKE
GHTKGPFLVS APLSTIINWE REFQMWAPKF YVVTYTGDKD SRAIIRENEF SFEDNAIKGG
KKAFKMKREA QVKFHVLLTS YELITIDQAA LGSIRWACLV VDEAHRLKNN QSKFFRVLNG
YKIDHKLLLT GTPLQNNLEE LFHLLNFLTP ERFNNLEGFL EEFADISKED QIKKLHDLLG
PHMLRRLKAD VFKNMPAKTE LIVRVELSPM QKKYYKYILT RNFEALNSRG GGNQVSLLNI
MMDLKKCCNH PYLFPVAAME SPKLPSGAYE GGALIKSSGK LMLLQKMLRK LKEQGHRVLI
FSQMTKMLDL LEDFLDYEGY KYERIDGGIT GALRQEAIDR FNAPGAQQFC FLLSTRAGGL
GINLATADTV IIFDSDWNPH NDIQAFSRAH RIGQANKVMI YRFVTRASVE ERITQVAKRK
MMLTHLVVRP GLGSKAGSMS KQELDDILKF GTEELFKDEN EGENKEEDSS VIHYDNEAIA
RLLDRNQDAT EDTDVQNMNE YLSSFKVAQY VVREEDKIEE IEREIIKQEE NVDPDYWEKL
LRHHYEQQQE DLARNLGKGK RVRKQVNYND AAQEDQDNQS EYSVGSEEED EDFDERPEGR
RQSKRQLRNE KDKPLPPLLA RVGGNIEVLG FNTRQRKAFL NAVMRWGMPP QDAFTTQWLV
RDLRGKTEKE FKAYVSLFMR HLCEPGADGS ETFADGVPRE GLSRQQVLTR IGVMSLVKKK
VQEFEHINGR WSMPELMPDP SADSKRSSRA SSPTKTSPTT PEASATNSPC TSKPATPAPS
EKGEGIRTPL EKEEAENQEE KPEKNSRIGE KMETEADAPS PAPSLGERLE PRKIPLEDEV
PGVPGEMEPE PGYRGDREKS ATESTPGERG EEKPLDGQEH RERPEGETGD LGKREDVKGD
RELRPGPRDE PRSNGRREEK TEKPRFMFNI ADGGFTELHT LWQNEERAAI SSGKLNEIWH
RRHDYWLLAG IVLHGYARWQ DIQNDAQFAI INEPFKTEAN KGNFLEMKNK FLARRFKLLE
QALVIEEQLR RAAYLNLSQE PAHPAMALHA RFAEAECLAE SHQHLSKESL AGNKPANAVL
HKGKGRGGPA RGRAHNAASE PAGGVAERHE GGRDPPASHA VPNTPHRSPP SDVRAQHPQP
AGQQGHGASP HTGLPAGSLR YTSGVRGGLQ RRTRRGPGRR RRQLQPDACR VLHHSRHQRP
SSACEEGEGN GGGIGVRRAG SEGAPSRGGD LYRRLTGSQA CPSPRPRPRG RPPAQALGPA
ASPPPSPPLG PSLG*

Position of stopcodon in wt / mu CDS

6345 / 6345

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

2115 / 2115

Position of stopcodon in wt / mu cDNA

6356 / 6356

Position of start ATG in wt / mu cDNA

12 / 12

Last intron/exon boundary

6115

Theoretical NMD boundary in CDS

6053

Length of CDS

6345

Coding sequence (CDS) position

1019

cDNA position

1030

gDNA position

9058

Chromosomal position

7893853

Speed

0.04 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:

17:7893853G>T_3_ENST00000330494

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 64|36 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:7893853G>T (GRCh38)

Gene symbol

CHD3

Gene constraints

LOEUF: 0.26, LOF (oe): 0.20, misssense (oe): 0.55, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000330494.12

Genbank transcript ID

NM_001005273 (exact from MANE)

UniProt / AlphaMissense peptide

CHD3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.842G>T
g.9058G>T

AA changes

AAE:	R281L	?
Score:	102

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs139173826
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		281	R	R	S	K	S	P	R	V	P	D	G	R	K	K	L	R	G	K	K	M	A	P	L	K
mutated	not conserved	281	R	R	S	K	S	P	R	V	P	D	G	L	K	K	L	R	G	K	K	M	A	P	L
Ptroglodytes	all identical	339				K	S	P	R	V	P	D	G	R	K	K	L	R	G	K	K	M	A	P	L
Mmulatta	all identical	340				K	S	P	R	V	P	D	G	R	K	K	L	R	G	K	K	M	A	P	L
Fcatus	all identical	340				K	S	P	R	V	P	D	G	R	K	K	L	R	G	K	K	M	A	P	L
Mmusculus	all identical	334			N	K	S	P	R	V	P	D	G	R	K	K	L	R	G	K	K	M	A	P	L
Ggallus	no alignment	n/a
Trubripes	all conserved	299	K	R	S	K	S	P	R	V	S	D	K	K	K	A	AA	K	I	K	K	M	A	P	I
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	not conserved	316	K	P	Y	K	S	P	R	V	A	E	P	-	K	K	V	G	K	K	K	M	A	P	L

Protein features

Start (aa)	End (aa)	Feature	Details
1	2000	CHAIN		lost
231	359	REGION		lost
262	290	COMPBIAS	Basic residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.39	0.979
	2.179	0.997
(flanking)	0.22	0.994

?

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

17

Strand

1

Original gDNA sequence snippet

CCCCCGAGTGCCTGATGGACGCAAGAAGCTTCGGGGAAAGA

Altered gDNA sequence snippet

CCCCCGAGTGCCTGATGGACTCAAGAAGCTTCGGGGAAAGA

Original cDNA sequence snippet

CCCCCGAGTGCCTGATGGACGCAAGAAGCTTCGGGGAAAGA

Altered cDNA sequence snippet

CCCCCGAGTGCCTGATGGACTCAAGAAGCTTCGGGGAAAGA

Wildtype AA sequence

MKAADTVILW ARSKNDQLRI SFPPGLCWGD RMPDKDDIRL LPSALGVKKR KRGPKKQKEN
KPGKPRKRKK RDSEEEFGSE RDEYREKSES GGSEYGTGPG RKRRRKHREK KEKKTKRRKK
GEGDGGQKQV EQKSSATLLL TWGLEDVEHV FSEEDYHTLT NYKAFSQFMR PLIAKKNPKI
PMSKMMTILG AKWREFSANN PFKGSAAAVA AAAAAAAAAV AEQVSAAVSS ATPIAPSGPP
ALPPPPAADI QPPPIRRAKT KEGKGPGHKR RSKSPRVPDG RKKLRGKKMA PLKIKLGLLG
GKRKKGGSYV FQSDEGPEPE AEESDLDSGS VHSASGRPDG PVRTKKLKRG RPGRKKKKVL
GCPAVAGEEE VDGYETDHQD YCEVCQQGGE IILCDTCPRA YHLVCLDPEL DRAPEGKWSC
PHCEKEGVQW EAKEEEEEYE EEGEEEGEKE EEDDHMEYCR VCKDGGELLC CDACISSYHI
HCLNPPLPDI PNGEWLCPRC TCPVLKGRVQ KILHWRWGEP PVAVPAPQQA DGNPDVPPPR
PLQGRSEREF FVKWVGLSYW HCSWAKELQL EIFHLVMYRN YQRKNDMDEP PPLDYGSGED
DGKSDKRKVK DPHYAEMEEK YYRFGIKPEW MTVHRIINHS VDKKGNYHYL VKWRDLPYDQ
STWEEDEMNI PEYEEHKQSY WRHRELIMGE DPAQPRKYKK KKKELQGDGP PSSPTNDPTV
KYETQPRFIT ATGGTLHMYQ LEGLNWLRFS WAQGTDTILA DEMGLGKTIQ TIVFLYSLYK
EGHTKGPFLV SAPLSTIINW EREFQMWAPK FYVVTYTGDK DSRAIIRENE FSFEDNAIKG
GKKAFKMKRE AQVKFHVLLT SYELITIDQA ALGSIRWACL VVDEAHRLKN NQSKFFRVLN
GYKIDHKLLL TGTPLQNNLE ELFHLLNFLT PERFNNLEGF LEEFADISKE DQIKKLHDLL
GPHMLRRLKA DVFKNMPAKT ELIVRVELSP MQKKYYKYIL TRNFEALNSR GGGNQVSLLN
IMMDLKKCCN HPYLFPVAAM ESPKLPSGAY EGGALIKSSG KLMLLQKMLR KLKEQGHRVL
IFSQMTKMLD LLEDFLDYEG YKYERIDGGI TGALRQEAID RFNAPGAQQF CFLLSTRAGG
LGINLATADT VIIFDSDWNP HNDIQAFSRA HRIGQANKVM IYRFVTRASV EERITQVAKR
KMMLTHLVVR PGLGSKAGSM SKQELDDILK FGTEELFKDE NEGENKEEDS SVIHYDNEAI
ARLLDRNQDA TEDTDVQNMN EYLSSFKVAQ YVVREEDKIE EIEREIIKQE ENVDPDYWEK
LLRHHYEQQQ EDLARNLGKG KRVRKQVNYN DAAQEDQDNQ SEYSVGSEEE DEDFDERPEG
RRQSKRQLRN EKDKPLPPLL ARVGGNIEVL GFNTRQRKAF LNAVMRWGMP PQDAFTTQWL
VRDLRGKTEK EFKAYVSLFM RHLCEPGADG SETFADGVPR EGLSRQQVLT RIGVMSLVKK
KVQEFEHING RWSMPELMPD PSADSKRSSR ASSPTKTSPT TPEASATNSP CTSKPATPAP
SEKGEGIRTP LEKEEAENQE EKPEKNSRIG EKMETEADAP SPAPSLGERL EPRKIPLEDE
VPGVPGEMEP EPGYRGDREK SATESTPGER GEEKPLDGQE HRERPEGETG DLGKREDVKG
DRELRPGPRD EPRSNGRREE KTEKPRFMFN IADGGFTELH TLWQNEERAA ISSGKLNEIW
HRRHDYWLLA GIVLHGYARW QDIQNDAQFA IINEPFKTEA NKGNFLEMKN KFLARRFKLL
EQALVIEEQL RRAAYLNLSQ EPAHPAMALH ARFAEAECLA ESHQHLSKES LAGNKPANAV
LHKVLNQLEE LLSDMKADVT RLPATLSRIP PIAARLQMSE RSILSRLASK GTEPHPTPAY
PPGPYATPPG YGAAFSAAPV GALAAAGANY SQMPAGSFIT AATNGPPVLV KKEKEMVGAL
VSDGLDRKEP RAGEVICIDD *

Mutated AA sequence

MKAADTVILW ARSKNDQLRI SFPPGLCWGD RMPDKDDIRL LPSALGVKKR KRGPKKQKEN
KPGKPRKRKK RDSEEEFGSE RDEYREKSES GGSEYGTGPG RKRRRKHREK KEKKTKRRKK
GEGDGGQKQV EQKSSATLLL TWGLEDVEHV FSEEDYHTLT NYKAFSQFMR PLIAKKNPKI
PMSKMMTILG AKWREFSANN PFKGSAAAVA AAAAAAAAAV AEQVSAAVSS ATPIAPSGPP
ALPPPPAADI QPPPIRRAKT KEGKGPGHKR RSKSPRVPDG LKKLRGKKMA PLKIKLGLLG
GKRKKGGSYV FQSDEGPEPE AEESDLDSGS VHSASGRPDG PVRTKKLKRG RPGRKKKKVL
GCPAVAGEEE VDGYETDHQD YCEVCQQGGE IILCDTCPRA YHLVCLDPEL DRAPEGKWSC
PHCEKEGVQW EAKEEEEEYE EEGEEEGEKE EEDDHMEYCR VCKDGGELLC CDACISSYHI
HCLNPPLPDI PNGEWLCPRC TCPVLKGRVQ KILHWRWGEP PVAVPAPQQA DGNPDVPPPR
PLQGRSEREF FVKWVGLSYW HCSWAKELQL EIFHLVMYRN YQRKNDMDEP PPLDYGSGED
DGKSDKRKVK DPHYAEMEEK YYRFGIKPEW MTVHRIINHS VDKKGNYHYL VKWRDLPYDQ
STWEEDEMNI PEYEEHKQSY WRHRELIMGE DPAQPRKYKK KKKELQGDGP PSSPTNDPTV
KYETQPRFIT ATGGTLHMYQ LEGLNWLRFS WAQGTDTILA DEMGLGKTIQ TIVFLYSLYK
EGHTKGPFLV SAPLSTIINW EREFQMWAPK FYVVTYTGDK DSRAIIRENE FSFEDNAIKG
GKKAFKMKRE AQVKFHVLLT SYELITIDQA ALGSIRWACL VVDEAHRLKN NQSKFFRVLN
GYKIDHKLLL TGTPLQNNLE ELFHLLNFLT PERFNNLEGF LEEFADISKE DQIKKLHDLL
GPHMLRRLKA DVFKNMPAKT ELIVRVELSP MQKKYYKYIL TRNFEALNSR GGGNQVSLLN
IMMDLKKCCN HPYLFPVAAM ESPKLPSGAY EGGALIKSSG KLMLLQKMLR KLKEQGHRVL
IFSQMTKMLD LLEDFLDYEG YKYERIDGGI TGALRQEAID RFNAPGAQQF CFLLSTRAGG
LGINLATADT VIIFDSDWNP HNDIQAFSRA HRIGQANKVM IYRFVTRASV EERITQVAKR
KMMLTHLVVR PGLGSKAGSM SKQELDDILK FGTEELFKDE NEGENKEEDS SVIHYDNEAI
ARLLDRNQDA TEDTDVQNMN EYLSSFKVAQ YVVREEDKIE EIEREIIKQE ENVDPDYWEK
LLRHHYEQQQ EDLARNLGKG KRVRKQVNYN DAAQEDQDNQ SEYSVGSEEE DEDFDERPEG
RRQSKRQLRN EKDKPLPPLL ARVGGNIEVL GFNTRQRKAF LNAVMRWGMP PQDAFTTQWL
VRDLRGKTEK EFKAYVSLFM RHLCEPGADG SETFADGVPR EGLSRQQVLT RIGVMSLVKK
KVQEFEHING RWSMPELMPD PSADSKRSSR ASSPTKTSPT TPEASATNSP CTSKPATPAP
SEKGEGIRTP LEKEEAENQE EKPEKNSRIG EKMETEADAP SPAPSLGERL EPRKIPLEDE
VPGVPGEMEP EPGYRGDREK SATESTPGER GEEKPLDGQE HRERPEGETG DLGKREDVKG
DRELRPGPRD EPRSNGRREE KTEKPRFMFN IADGGFTELH TLWQNEERAA ISSGKLNEIW
HRRHDYWLLA GIVLHGYARW QDIQNDAQFA IINEPFKTEA NKGNFLEMKN KFLARRFKLL
EQALVIEEQL RRAAYLNLSQ EPAHPAMALH ARFAEAECLA ESHQHLSKES LAGNKPANAV
LHKVLNQLEE LLSDMKADVT RLPATLSRIP PIAARLQMSE RSILSRLASK GTEPHPTPAY
PPGPYATPPG YGAAFSAAPV GALAAAGANY SQMPAGSFIT AATNGPPVLV KKEKEMVGAL
VSDGLDRKEP RAGEVICIDD *

Position of stopcodon in wt / mu CDS

6003 / 6003

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

2001 / 2001

Position of stopcodon in wt / mu cDNA

6215 / 6215

Position of start ATG in wt / mu cDNA

213 / 213

Last intron/exon boundary

6093

Theoretical NMD boundary in CDS

5830

Length of CDS

6003

Coding sequence (CDS) position

842

cDNA position

1054

gDNA position

9058

Chromosomal position

7893853

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

Back to summary table

MutationT@ster 2025

Variant:

17:7893853G>T_4_ENST00000358181

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 75|25 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:7893853G>T (GRCh38)

Gene symbol

CHD3

Gene constraints

LOEUF: 0.24, LOF (oe): 0.19, misssense (oe): 0.54, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000358181.8

Genbank transcript ID

NM_005852 (by similarity)

UniProt / AlphaMissense peptide

CHD3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.842G>T
g.9058G>T

AA changes

AAE:	R281L	?
Score:	102

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs139173826
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		281	R	R	S	K	S	P	R	V	P	D	G	R	K	K	L	R	G	K	K	M	A	P	L	K
mutated	not conserved	281	R	R	S	K	S	P	R	V	P	D	G	L	K	K	L	R	G	K	K	M	A	P	L
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
1	2000	CHAIN		lost
231	359	REGION		lost
262	290	COMPBIAS	Basic residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.39	0.979
	2.179	0.997
(flanking)	0.22	0.994

?

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

17

Strand

1

Original gDNA sequence snippet

CCCCCGAGTGCCTGATGGACGCAAGAAGCTTCGGGGAAAGA

Altered gDNA sequence snippet

CCCCCGAGTGCCTGATGGACTCAAGAAGCTTCGGGGAAAGA

Original cDNA sequence snippet

CCCCCGAGTGCCTGATGGACGCAAGAAGCTTCGGGGAAAGA

Altered cDNA sequence snippet

CCCCCGAGTGCCTGATGGACTCAAGAAGCTTCGGGGAAAGA

Wildtype AA sequence

MKAADTVILW ARSKNDQLRI SFPPGLCWGD RMPDKDDIRL LPSALGVKKR KRGPKKQKEN
KPGKPRKRKK RDSEEEFGSE RDEYREKSES GGSEYGTGPG RKRRRKHREK KEKKTKRRKK
GEGDGGQKQV EQKSSATLLL TWGLEDVEHV FSEEDYHTLT NYKAFSQFMR PLIAKKNPKI
PMSKMMTILG AKWREFSANN PFKGSAAAVA AAAAAAAAAV AEQVSAAVSS ATPIAPSGPP
ALPPPPAADI QPPPIRRAKT KEGKGPGHKR RSKSPRVPDG RKKLRGKKMA PLKIKLGLLG
GKRKKGGSYV FQSDEGPEPE AEESDLDSGS VHSASGRPDG PVRTKKLKRG RPGRKKKKVL
GCPAVAGEEE VDGYETDHQD YCEVCQQGGE IILCDTCPRA YHLVCLDPEL DRAPEGKWSC
PHCEKEGVQW EAKEEEEEYE EEGEEEGEKE EEDDHMEYCR VCKDGGELLC CDACISSYHI
HCLNPPLPDI PNGEWLCPRC TCPVLKGRVQ KILHWRWGEP PVAVPAPQQA DGNPDVPPPR
PLQGRSEREF FVKWVGLSYW HCSWAKELQL EIFHLVMYRN YQRKNDMDEP PPLDYGSGED
DGKSDKRKVK DPHYAEMEEK YYRFGIKPEW MTVHRIINHS VDKKGNYHYL VKWRDLPYDQ
STWEEDEMNI PEYEEHKQSY WRHRELIMGE DPAQPRKYKK KKKELQGDGP PSSPTNDPTV
KYETQPRFIT ATGGTLHMYQ LEGLNWLRFS WAQGTDTILA DEMGLGKTIQ TIVFLYSLYK
EGHTKGPFLV SAPLSTIINW EREFQMWAPK FYVVTYTGDK DSRAIIRENE FSFEDNAIKG
GKKAFKMKRE AQVKFHVLLT SYELITIDQA ALGSIRWACL VVDEAHRLKN NQSKFFRVLN
GYKIDHKLLL TGTPLQNNLE ELFHLLNFLT PERFNNLEGF LEEFADISKE DQIKKLHDLL
GPHMLRRLKA DVFKNMPAKT ELIVRVELSP MQKKYYKYIL TRNFEALNSR GGGNQVSLLN
IMMDLKKCCN HPYLFPVAAM ESPKLPSGAY EGGALIKSSG KLMLLQKMLR KLKEQGHRVL
IFSQMTKMLD LLEDFLDYEG YKYERIDGGI TGALRQEAID RFNAPGAQQF CFLLSTRAGG
LGINLATADT VIIFDSDWNP HNDIQAFSRA HRIGQANKVM IYRFVTRASV EERITQVAKR
KMMLTHLVVR PGLGSKAGSM SKQELDDILK FGTEELFKDE NEGENKEEDS SVIHYDNEAI
ARLLDRNQDA TEDTDVQNMN EYLSSFKVAQ YVVREEDKIE EIEREIIKQE ENVDPDYWEK
LLRHHYEQQQ EDLARNLGKG KRVRKQVNYN DAAQEDQDNQ SEYSVGSEEE DEDFDERPEG
RRQSKRQLRN EKDKPLPPLL ARVGGNIEVL GFNTRQRKAF LNAVMRWGMP PQDAFTTQWL
VRDLRGKTEK EFKAYVSLFM RHLCEPGADG SETFADGVPR EGLSRQQVLT RIGVMSLVKK
KVQEFEHING RWSMPELMPD PSADSKRSSR ASSPTKTSPT TPEASATNSP CTSKPATPAP
SEKGEGIRTP LEKEEAENQE EKPEKNSRIG EKMETEADAP SPAPSLGERL EPRKIPLEDE
VPGVPGEMEP EPGYRGDREK SEDVKGDREL RPGPRDEPRS NGRREEKTEK PRFMFNIADG
GFTELHTLWQ NEERAAISSG KLNEIWHRRH DYWLLAGIVL HGYARWQDIQ NDAQFAIINE
PFKTEANKGN FLEMKNKFLA RRFKLLEQAL VIEEQLRRAA YLNLSQEPAH PAMALHARFA
EAECLAESHQ HLSKESLAGN KPANAVLHKV LNQLEELLSD MKADVTRLPA TLSRIPPIAA
RLQMSERSIL SRLASKGTEP HPTPAYPPGP YATPPGYGAA FSAAPVGALA AAGANYSQMP
AGSFITAATN GPPVLVKKEK EMVGALVSDG LDRKEPRAGE VICIDD*

Mutated AA sequence

MKAADTVILW ARSKNDQLRI SFPPGLCWGD RMPDKDDIRL LPSALGVKKR KRGPKKQKEN
KPGKPRKRKK RDSEEEFGSE RDEYREKSES GGSEYGTGPG RKRRRKHREK KEKKTKRRKK
GEGDGGQKQV EQKSSATLLL TWGLEDVEHV FSEEDYHTLT NYKAFSQFMR PLIAKKNPKI
PMSKMMTILG AKWREFSANN PFKGSAAAVA AAAAAAAAAV AEQVSAAVSS ATPIAPSGPP
ALPPPPAADI QPPPIRRAKT KEGKGPGHKR RSKSPRVPDG LKKLRGKKMA PLKIKLGLLG
GKRKKGGSYV FQSDEGPEPE AEESDLDSGS VHSASGRPDG PVRTKKLKRG RPGRKKKKVL
GCPAVAGEEE VDGYETDHQD YCEVCQQGGE IILCDTCPRA YHLVCLDPEL DRAPEGKWSC
PHCEKEGVQW EAKEEEEEYE EEGEEEGEKE EEDDHMEYCR VCKDGGELLC CDACISSYHI
HCLNPPLPDI PNGEWLCPRC TCPVLKGRVQ KILHWRWGEP PVAVPAPQQA DGNPDVPPPR
PLQGRSEREF FVKWVGLSYW HCSWAKELQL EIFHLVMYRN YQRKNDMDEP PPLDYGSGED
DGKSDKRKVK DPHYAEMEEK YYRFGIKPEW MTVHRIINHS VDKKGNYHYL VKWRDLPYDQ
STWEEDEMNI PEYEEHKQSY WRHRELIMGE DPAQPRKYKK KKKELQGDGP PSSPTNDPTV
KYETQPRFIT ATGGTLHMYQ LEGLNWLRFS WAQGTDTILA DEMGLGKTIQ TIVFLYSLYK
EGHTKGPFLV SAPLSTIINW EREFQMWAPK FYVVTYTGDK DSRAIIRENE FSFEDNAIKG
GKKAFKMKRE AQVKFHVLLT SYELITIDQA ALGSIRWACL VVDEAHRLKN NQSKFFRVLN
GYKIDHKLLL TGTPLQNNLE ELFHLLNFLT PERFNNLEGF LEEFADISKE DQIKKLHDLL
GPHMLRRLKA DVFKNMPAKT ELIVRVELSP MQKKYYKYIL TRNFEALNSR GGGNQVSLLN
IMMDLKKCCN HPYLFPVAAM ESPKLPSGAY EGGALIKSSG KLMLLQKMLR KLKEQGHRVL
IFSQMTKMLD LLEDFLDYEG YKYERIDGGI TGALRQEAID RFNAPGAQQF CFLLSTRAGG
LGINLATADT VIIFDSDWNP HNDIQAFSRA HRIGQANKVM IYRFVTRASV EERITQVAKR
KMMLTHLVVR PGLGSKAGSM SKQELDDILK FGTEELFKDE NEGENKEEDS SVIHYDNEAI
ARLLDRNQDA TEDTDVQNMN EYLSSFKVAQ YVVREEDKIE EIEREIIKQE ENVDPDYWEK
LLRHHYEQQQ EDLARNLGKG KRVRKQVNYN DAAQEDQDNQ SEYSVGSEEE DEDFDERPEG
RRQSKRQLRN EKDKPLPPLL ARVGGNIEVL GFNTRQRKAF LNAVMRWGMP PQDAFTTQWL
VRDLRGKTEK EFKAYVSLFM RHLCEPGADG SETFADGVPR EGLSRQQVLT RIGVMSLVKK
KVQEFEHING RWSMPELMPD PSADSKRSSR ASSPTKTSPT TPEASATNSP CTSKPATPAP
SEKGEGIRTP LEKEEAENQE EKPEKNSRIG EKMETEADAP SPAPSLGERL EPRKIPLEDE
VPGVPGEMEP EPGYRGDREK SEDVKGDREL RPGPRDEPRS NGRREEKTEK PRFMFNIADG
GFTELHTLWQ NEERAAISSG KLNEIWHRRH DYWLLAGIVL HGYARWQDIQ NDAQFAIINE
PFKTEANKGN FLEMKNKFLA RRFKLLEQAL VIEEQLRRAA YLNLSQEPAH PAMALHARFA
EAECLAESHQ HLSKESLAGN KPANAVLHKV LNQLEELLSD MKADVTRLPA TLSRIPPIAA
RLQMSERSIL SRLASKGTEP HPTPAYPPGP YATPPGYGAA FSAAPVGALA AAGANYSQMP
AGSFITAATN GPPVLVKKEK EMVGALVSDG LDRKEPRAGE VICIDD*

Position of stopcodon in wt / mu CDS

5901 / 5901

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

1967 / 1967

Position of stopcodon in wt / mu cDNA

6111 / 6111

Position of start ATG in wt / mu cDNA

211 / 211

Last intron/exon boundary

5989

Theoretical NMD boundary in CDS

5728

Length of CDS

5901

Coding sequence (CDS) position

842

cDNA position

1052

gDNA position

9058

Chromosomal position

7893853

Speed

0.06 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:

17:7893853G>T_2_ENST00000380358

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 78|22 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:7893853G>T (GRCh38)

Gene symbol

CHD3

Gene constraints

LOEUF: 0.26, LOF (oe): 0.21, misssense (oe): 0.57, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000380358.9

Genbank transcript ID

NM_001005271 (by similarity)

UniProt / AlphaMissense peptide

CHD3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1019G>T
g.9058G>T

AA changes

AAE:	R340L	?
Score:	102

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs139173826
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		340	R	R	S	K	S	P	R	V	P	D	G	R	K	K	L	R	G	K	K	M	A	P	L	K
mutated	not conserved	340	R	R	S	K	S	P	R	V	P	D	G	L	K	K	L	R	G	K	K	M	A	P	L
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
1	2000	CHAIN		lost
231	359	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.39	0.979
	2.179	0.997
(flanking)	0.22	0.994

?

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

17

Strand

1

Original gDNA sequence snippet

CCCCCGAGTGCCTGATGGACGCAAGAAGCTTCGGGGAAAGA

Altered gDNA sequence snippet

CCCCCGAGTGCCTGATGGACTCAAGAAGCTTCGGGGAAAGA

Original cDNA sequence snippet

CCCCCGAGTGCCTGATGGACGCAAGAAGCTTCGGGGAAAGA

Altered cDNA sequence snippet

CCCCCGAGTGCCTGATGGACTCAAGAAGCTTCGGGGAAAGA

Wildtype AA sequence

MASPLRDEEE EEEEMVVSEE EEEEEEEGDE EEEEEVEAAD EDDEEDDDEG VLGRGPGHDR
GRDRHSPPGC HLFPPPPPPP PPLPPPPPPP PPDKDDIRLL PSALGVKKRK RGPKKQKENK
PGKPRKRKKR DSEEEFGSER DEYREKSESG GSEYGTGPGR KRRRKHREKK EKKTKRRKKG
EGDGGQKQVE QKSSATLLLT WGLEDVEHVF SEEDYHTLTN YKAFSQFMRP LIAKKNPKIP
MSKMMTILGA KWREFSANNP FKGSAAAVAA AAAAAAAAVA EQVSAAVSSA TPIAPSGPPA
LPPPPAADIQ PPPIRRAKTK EGKGPGHKRR SKSPRVPDGR KKLRGKKMAP LKIKLGLLGG
KRKKGGSYVF QSDEGPEPEA EESDLDSGSV HSASGRPDGP VRTKKLKRGR PGRKKKKVLG
CPAVAGEEEV DGYETDHQDY CEVCQQGGEI ILCDTCPRAY HLVCLDPELD RAPEGKWSCP
HCEKEGVQWE AKEEEEEYEE EGEEEGEKEE EDDHMEYCRV CKDGGELLCC DACISSYHIH
CLNPPLPDIP NGEWLCPRCT CPVLKGRVQK ILHWRWGEPP VAVPAPQQAD GNPDVPPPRP
LQGRSEREFF VKWVGLSYWH CSWAKELQLE IFHLVMYRNY QRKNDMDEPP PLDYGSGEDD
GKSDKRKVKD PHYAEMEEKY YRFGIKPEWM TVHRIINHSV DKKGNYHYLV KWRDLPYDQS
TWEEDEMNIP EYEEHKQSYW RHRELIMGED PAQPRKYKKK KKELQGDGPP SSPTNDPTVK
YETQPRFITA TGGTLHMYQL EGLNWLRFSW AQGTDTILAD EMGLGKTIQT IVFLYSLYKE
GHTKGPFLVS APLSTIINWE REFQMWAPKF YVVTYTGDKD SRAIIRENEF SFEDNAIKGG
KKAFKMKREA QVKFHVLLTS YELITIDQAA LGSIRWACLV VDEAHRLKNN QSKFFRVLNG
YKIDHKLLLT GTPLQNNLEE LFHLLNFLTP ERFNNLEGFL EEFADISKED QIKKLHDLLG
PHMLRRLKAD VFKNMPAKTE LIVRVELSPM QKKYYKYILT RNFEALNSRG GGNQVSLLNI
MMDLKKCCNH PYLFPVAAME SPKLPSGAYE GGALIKSSGK LMLLQKMLRK LKEQGHRVLI
FSQMTKMLDL LEDFLDYEGY KYERIDGGIT GALRQEAIDR FNAPGAQQFC FLLSTRAGGL
GINLATADTV IIFDSDWNPH NDIQAFSRAH RIGQANKVMI YRFVTRASVE ERITQVAKRK
MMLTHLVVRP GLGSKAGSMS KQELDDILKF GTEELFKDEN EGENKEEDSS VIHYDNEAIA
RLLDRNQDAT EDTDVQNMNE YLSSFKVAQY VVREEDKIEE IEREIIKQEE NVDPDYWEKL
LRHHYEQQQE DLARNLGKGK RVRKQVNYND AAQEDQDNQS EYSVGSEEED EDFDERPEGR
RQSKRQLRNE KDKPLPPLLA RVGGNIEVLG FNTRQRKAFL NAVMRWGMPP QDAFTTQWLV
RDLRGKTEKE FKAYVSLFMR HLCEPGADGS ETFADGVPRE GLSRQQVLTR IGVMSLVKKK
VQEFEHINGR WSMPELMPDP SADSKRSSRA SSPTKTSPTT PEASATNSPC TSKPATPAPS
EKGEGIRTPL EKEEAENQEE KPEKNSRIGE KMETEADAPS PAPSLGERLE PRKIPLEDEV
PGVPGEMEPE PGYRGDREKS ATESTPGERG EEKPLDGQEH RERPEGETGD LGKREDVKGD
RELRPGPRDE PRSNGRREEK TEKPRFMFNI ADGGFTELHT LWQNEERAAI SSGKLNEIWH
RRHDYWLLAG IVLHGYARWQ DIQNDAQFAI INEPFKTEAN KGNFLEMKNK FLARRFKLLE
QALVIEEQLR RAAYLNLSQE PAHPAMALHA RFAEAECLAE SHQHLSKESL AGNKPANAVL
HKVLNQLEEL LSDMKADVTR LPATLSRIPP IAARLQMSER SILSRLASKG TEPHPTPAYP
PGPYATPPGY GAAFSAAPVG ALAAAGANYS QMPAGSFITA ATNGPPVLVK KEKEMVGALV
SDGLDRKEPR AGEVICIDD*

Mutated AA sequence

MASPLRDEEE EEEEMVVSEE EEEEEEEGDE EEEEEVEAAD EDDEEDDDEG VLGRGPGHDR
GRDRHSPPGC HLFPPPPPPP PPLPPPPPPP PPDKDDIRLL PSALGVKKRK RGPKKQKENK
PGKPRKRKKR DSEEEFGSER DEYREKSESG GSEYGTGPGR KRRRKHREKK EKKTKRRKKG
EGDGGQKQVE QKSSATLLLT WGLEDVEHVF SEEDYHTLTN YKAFSQFMRP LIAKKNPKIP
MSKMMTILGA KWREFSANNP FKGSAAAVAA AAAAAAAAVA EQVSAAVSSA TPIAPSGPPA
LPPPPAADIQ PPPIRRAKTK EGKGPGHKRR SKSPRVPDGL KKLRGKKMAP LKIKLGLLGG
KRKKGGSYVF QSDEGPEPEA EESDLDSGSV HSASGRPDGP VRTKKLKRGR PGRKKKKVLG
CPAVAGEEEV DGYETDHQDY CEVCQQGGEI ILCDTCPRAY HLVCLDPELD RAPEGKWSCP
HCEKEGVQWE AKEEEEEYEE EGEEEGEKEE EDDHMEYCRV CKDGGELLCC DACISSYHIH
CLNPPLPDIP NGEWLCPRCT CPVLKGRVQK ILHWRWGEPP VAVPAPQQAD GNPDVPPPRP
LQGRSEREFF VKWVGLSYWH CSWAKELQLE IFHLVMYRNY QRKNDMDEPP PLDYGSGEDD
GKSDKRKVKD PHYAEMEEKY YRFGIKPEWM TVHRIINHSV DKKGNYHYLV KWRDLPYDQS
TWEEDEMNIP EYEEHKQSYW RHRELIMGED PAQPRKYKKK KKELQGDGPP SSPTNDPTVK
YETQPRFITA TGGTLHMYQL EGLNWLRFSW AQGTDTILAD EMGLGKTIQT IVFLYSLYKE
GHTKGPFLVS APLSTIINWE REFQMWAPKF YVVTYTGDKD SRAIIRENEF SFEDNAIKGG
KKAFKMKREA QVKFHVLLTS YELITIDQAA LGSIRWACLV VDEAHRLKNN QSKFFRVLNG
YKIDHKLLLT GTPLQNNLEE LFHLLNFLTP ERFNNLEGFL EEFADISKED QIKKLHDLLG
PHMLRRLKAD VFKNMPAKTE LIVRVELSPM QKKYYKYILT RNFEALNSRG GGNQVSLLNI
MMDLKKCCNH PYLFPVAAME SPKLPSGAYE GGALIKSSGK LMLLQKMLRK LKEQGHRVLI
FSQMTKMLDL LEDFLDYEGY KYERIDGGIT GALRQEAIDR FNAPGAQQFC FLLSTRAGGL
GINLATADTV IIFDSDWNPH NDIQAFSRAH RIGQANKVMI YRFVTRASVE ERITQVAKRK
MMLTHLVVRP GLGSKAGSMS KQELDDILKF GTEELFKDEN EGENKEEDSS VIHYDNEAIA
RLLDRNQDAT EDTDVQNMNE YLSSFKVAQY VVREEDKIEE IEREIIKQEE NVDPDYWEKL
LRHHYEQQQE DLARNLGKGK RVRKQVNYND AAQEDQDNQS EYSVGSEEED EDFDERPEGR
RQSKRQLRNE KDKPLPPLLA RVGGNIEVLG FNTRQRKAFL NAVMRWGMPP QDAFTTQWLV
RDLRGKTEKE FKAYVSLFMR HLCEPGADGS ETFADGVPRE GLSRQQVLTR IGVMSLVKKK
VQEFEHINGR WSMPELMPDP SADSKRSSRA SSPTKTSPTT PEASATNSPC TSKPATPAPS
EKGEGIRTPL EKEEAENQEE KPEKNSRIGE KMETEADAPS PAPSLGERLE PRKIPLEDEV
PGVPGEMEPE PGYRGDREKS ATESTPGERG EEKPLDGQEH RERPEGETGD LGKREDVKGD
RELRPGPRDE PRSNGRREEK TEKPRFMFNI ADGGFTELHT LWQNEERAAI SSGKLNEIWH
RRHDYWLLAG IVLHGYARWQ DIQNDAQFAI INEPFKTEAN KGNFLEMKNK FLARRFKLLE
QALVIEEQLR RAAYLNLSQE PAHPAMALHA RFAEAECLAE SHQHLSKESL AGNKPANAVL
HKVLNQLEEL LSDMKADVTR LPATLSRIPP IAARLQMSER SILSRLASKG TEPHPTPAYP
PGPYATPPGY GAAFSAAPVG ALAAAGANYS QMPAGSFITA ATNGPPVLVK KEKEMVGALV
SDGLDRKEPR AGEVICIDD*

Position of stopcodon in wt / mu CDS

6180 / 6180

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

2060 / 2060

Position of stopcodon in wt / mu cDNA

6191 / 6191

Position of start ATG in wt / mu cDNA

12 / 12

Last intron/exon boundary

6069

Theoretical NMD boundary in CDS

6007

Length of CDS

6180

Coding sequence (CDS) position

1019

cDNA position

1030

gDNA position

9058

Chromosomal position

7893853

Speed

0.06 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