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: ENST00000634586
Querying Taster for transcript #2: ENST00000634840
Querying Taster for transcript #3: ENST00000264033
MT speed 0.33 s - this script 2.805318 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000634586	CBL	Deleterious	6\|4	complex_aae	No	Deletion	Deletion of more than 2 AA	Amino acid sequence changed
ENST00000634840	CBL	Deleterious	6\|4	complex_aae	No	Deletion	Deletion of more than 2 AA	Amino acid sequence changed
ENST00000264033(MANE Select)	CBL	Deleterious	6\|4	complex_aae	No	Deletion	Deletion of more than 2 AA	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

11:119206522GCACCACCACCAC>G_1_ENST00000634586

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: complex_aae
Tree vote: 6|4 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:119206523_119206534delCACCACCACCAC (GRCh38)

Gene symbol

CBL

Gene constraints

LOEUF: 0.64, LOF (oe): 0.49, misssense (oe): 0.87, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000634586.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.106_117delCACCACCACCAC
g.226_237delCACCACCACCAC

AA changes

deletion of more than 2 AA

AAE:	H36-	H37-	H38-	H39-	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Deletion of more than 2 AA

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs373212940
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		36	L	I	G	L	M	K	D	A	F	Q	P	H	H	H	H	H	H	H	L	S	P	H	P	P	G	T	V
mutated	partly conserved	36	L	I	G	L	M	K	D	A	F	Q	P	H	H	H	-	-	-	-	L	S	P	H	P	P	G	T
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)	0.037	0.89
	1.037	0.985
	1.201	0.994
	0.437	0.997
	3.505	1
	4.3	1
	1.969	1
	5.309	1
	3.243	1
	1.196	1
	3.52	1
	5.638	1
	0.787	1
(flanking)	4.523	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

11

Strand

1

Original gDNA sequence snippet

TGAAGGACGCCTTCCAGCCGCACCACCACCACCACCACCACCTCAGCCCCCA

Altered gDNA sequence snippet

TGAAGGACGCCTTCCAGCCGCACCACCACCTCAGCCCCCA

Original cDNA sequence snippet

TGAAGGACGCCTTCCAGCCGCACCACCACCACCACCACCACCTCAGCCCCCA

Altered cDNA sequence snippet

TGAAGGACGCCTTCCAGCCGCACCACCACCTCAGCCCCCA

Wildtype AA sequence

MAGNVKKSSG AGGGSGSGGS GSGGLIGLMK DAFQPHHHHH HHLSPHPPGT VDKKMVEKCW
KLMDKVVRLC QNPKLALKNS PPYILDLLPD TYQHLRTILS RYEGKMETLG ENEYFRVFME
NLMKKTKQTI SLFKEGKERM YEENSQPRRN LTKLSLIFSH MLAELKGIFP SGLFQGDTFR
ITKADAAEFW RKAFGEKTIV PWKSFRQALH EVHPISSGLE AMALKSTIDL TCNDYISVFE
FDIFTRLFQP WSSLLRNWNS LAVTHPGYMA FLTYDEVKAR LQKFIHKPGS YIFRLSCTRL
GQWAIGYVTA DGNILQTIPH NKPLFQALID GFREGFYLFP DGRNQNPDLT GLCEPTPQDH
IKVTQEQYEL YCEMGSTFQL CKICAENDKD VKIEPCGHLM CTSCLTSWQE SEGQGCPFCR
CEIKGTEPIV VDPFDPRGSG SLLRQGAEGA PSPNYDDDDD ERADDTLFMM KELAGAKVER
PPSPFSMAPQ ASLPPVPPRL DLLPQRVCVP SSASALGTAS KAASGSLHKD KPLPVPPTLR
DLPPPPPPDR PYSVGAESRP QRRPLPCTPG DCPSRDKLPP VPSSRLGDSW LPRPIPKVPV
SAPSSSDPWT GRELTNRHSL PFSLPSQMEP RPDVPRLGST FSLDTSMSMN SSPLVGPECD
HPKIKPSSSA NAIYSLAARP LPVPKLPPGE QCEGEEDTEY MTPSSRPLRP LDTSQSSRAC
DCDQQIDSCT YEAMYNIQSQ APSITESSTF GEGNLAAAHA NTGPEESENE DDGYDVPKPP
VPAVLARRTL SDISNASSSF GWLSLDGDPT TNVTEGSQVP ERPPKPFPRR INSERKAGSC
QQGSGPAASA ATASPQLSKQ SPKANLRSPD LAAEEISRVL IA*

Mutated AA sequence

MAGNVKKSSG AGGGSGSGGS GSGGLIGLMK DAFQPHHHLS PHPPGTVDKK MVEKCWKLMD
KVVRLCQNPK LALKNSPPYI LDLLPDTYQH LRTILSRYEG KMETLGENEY FRVFMENLMK
KTKQTISLFK EGKERMYEEN SQPRRNLTKL SLIFSHMLAE LKGIFPSGLF QGDTFRITKA
DAAEFWRKAF GEKTIVPWKS FRQALHEVHP ISSGLEAMAL KSTIDLTCND YISVFEFDIF
TRLFQPWSSL LRNWNSLAVT HPGYMAFLTY DEVKARLQKF IHKPGSYIFR LSCTRLGQWA
IGYVTADGNI LQTIPHNKPL FQALIDGFRE GFYLFPDGRN QNPDLTGLCE PTPQDHIKVT
QEQYELYCEM GSTFQLCKIC AENDKDVKIE PCGHLMCTSC LTSWQESEGQ GCPFCRCEIK
GTEPIVVDPF DPRGSGSLLR QGAEGAPSPN YDDDDDERAD DTLFMMKELA GAKVERPPSP
FSMAPQASLP PVPPRLDLLP QRVCVPSSAS ALGTASKAAS GSLHKDKPLP VPPTLRDLPP
PPPPDRPYSV GAESRPQRRP LPCTPGDCPS RDKLPPVPSS RLGDSWLPRP IPKVPVSAPS
SSDPWTGREL TNRHSLPFSL PSQMEPRPDV PRLGSTFSLD TSMSMNSSPL VGPECDHPKI
KPSSSANAIY SLAARPLPVP KLPPGEQCEG EEDTEYMTPS SRPLRPLDTS QSSRACDCDQ
QIDSCTYEAM YNIQSQAPSI TESSTFGEGN LAAAHANTGP EESENEDDGY DVPKPPVPAV
LARRTLSDIS NASSSFGWLS LDGDPTTNVT EGSQVPERPP KPFPRRINSE RKAGSCQQGS
GPAASAATAS PQLSKQSPKA NLRSPDLAAE EISRVLIA*

Position of stopcodon in wt / mu CDS

2649 / 2637

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

883 / 879

Position of stopcodon in wt / mu cDNA

2769 / 2757

Position of start ATG in wt / mu cDNA

121 / 121

Last intron/exon boundary

2788

Theoretical NMD boundary in CDS

2617

Length of CDS

2649

Coding sequence (CDS) position

105 / 118

cDNA position

225 / 238

gDNA position

225 / 238

Chromosomal position

119206522 / 119206535

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

MutationT@ster 2025

Variant:

11:119206522GCACCACCACCAC>G_2_ENST00000634840

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: complex_aae
Tree vote: 6|4 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:119206523_119206534delCACCACCACCAC (GRCh38)

Gene symbol

CBL

Gene constraints

LOEUF: 0.60, LOF (oe): 0.45, misssense (oe): 0.85, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000634840.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.106_117delCACCACCACCAC
g.226_237delCACCACCACCAC

AA changes

deletion of more than 2 AA

AAE:	H36-	H37-	H38-	H39-	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Deletion of more than 2 AA

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs373212940
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		36	L	I	G	L	M	K	D	A	F	Q	P	H	H	H	H	H	H	H	L	S	P	H	P	P	G	T	V
mutated	partly conserved	36	L	I	G	L	M	K	D	A	F	Q	P	H	H	H	-	-	-	-	L	S	P	H	P	P	G	T
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)	0.037	0.89
	1.037	0.985
	1.201	0.994
	0.437	0.997
	3.505	1
	4.3	1
	1.969	1
	5.309	1
	3.243	1
	1.196	1
	3.52	1
	5.638	1
	0.787	1
(flanking)	4.523	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

11

Strand

1

Original gDNA sequence snippet

TGAAGGACGCCTTCCAGCCGCACCACCACCACCACCACCACCTCAGCCCCCA

Altered gDNA sequence snippet

TGAAGGACGCCTTCCAGCCGCACCACCACCTCAGCCCCCA

Original cDNA sequence snippet

TGAAGGACGCCTTCCAGCCGCACCACCACCACCACCACCACCTCAGCCCCCA

Altered cDNA sequence snippet

TGAAGGACGCCTTCCAGCCGCACCACCACCTCAGCCCCCA

Wildtype AA sequence

MAGNVKKSSG AGGGSGSGGS GSGGLIGLMK DAFQPHHHHH HHLSPHPPGT VDKKMVEKCW
KLMDKVVRLC QNPKLALKNS PPYILDLLPD TYQHLRTILS RYEGKMETLG ENEYFRVFME
NLMKKTKQTI SLFKEGKERM YEENSQPRRN LTKLSLIFSH MLAELKGIFP SGLFQGDTFR
ITKADAAEFW RKAFGEKTIV PWKSFRQALH EVHPISSGLE AMALKSTIDL TCNDYISVFE
FDIFTRLFQP WSSLLRNWNS LAVTHPGYMA FLTYDEVKAR LQKFIHKPGS YIFRLSCTRL
GQWAIGYVTA DGNILQTIPH NKPLFQALID GFREGFYLFP DGRNQNPDLT GLCEPTPQDH
IKVTQEQYEL YCEMGSTFQL CKICAENDKD VKIEPCGHLM CTSCLTSWQE SEGQGCPFCR
CEIKGTEPIV VDPFDPRGSG SLLRQGAEGA PSPNYDDDDD ERADDTLFMM KELAGAKAAS
GSLHKDKPLP VPPTLRDLPP PPPPDRPYSV GAESRPQRRP LPCTPGDCPS RDKLPPVPSS
RLGDSWLPRP IPKVPVSAPS SSDPWTGREL TNRHSLPFSL PSQMEPRPDV PRLGSTFSLD
TSMSMNSSPL VGPECDHPKI KPSSSANAIY SLAARPLPVP KLPPGEQCEG EEDTEYMTPS
SRPLRPLDTS QSSRACDCDQ QIDSCTYEAM YNIQSQAPSI TESSTFGEGN LAAAHANTGP
EESENEDDGY DVPKPPVPAV LARRTLSDIS NASSSFGWLS LDGDPTTNVT EGSQVPERPP
KPFPRRINSE RKAGSCQQGS GPAASAATAS PQLSSEIENL MSQGYSYQDI QKALVIAQNN
IEMAKNILRE FVSISSPAHV AT*

Mutated AA sequence

MAGNVKKSSG AGGGSGSGGS GSGGLIGLMK DAFQPHHHLS PHPPGTVDKK MVEKCWKLMD
KVVRLCQNPK LALKNSPPYI LDLLPDTYQH LRTILSRYEG KMETLGENEY FRVFMENLMK
KTKQTISLFK EGKERMYEEN SQPRRNLTKL SLIFSHMLAE LKGIFPSGLF QGDTFRITKA
DAAEFWRKAF GEKTIVPWKS FRQALHEVHP ISSGLEAMAL KSTIDLTCND YISVFEFDIF
TRLFQPWSSL LRNWNSLAVT HPGYMAFLTY DEVKARLQKF IHKPGSYIFR LSCTRLGQWA
IGYVTADGNI LQTIPHNKPL FQALIDGFRE GFYLFPDGRN QNPDLTGLCE PTPQDHIKVT
QEQYELYCEM GSTFQLCKIC AENDKDVKIE PCGHLMCTSC LTSWQESEGQ GCPFCRCEIK
GTEPIVVDPF DPRGSGSLLR QGAEGAPSPN YDDDDDERAD DTLFMMKELA GAKAASGSLH
KDKPLPVPPT LRDLPPPPPP DRPYSVGAES RPQRRPLPCT PGDCPSRDKL PPVPSSRLGD
SWLPRPIPKV PVSAPSSSDP WTGRELTNRH SLPFSLPSQM EPRPDVPRLG STFSLDTSMS
MNSSPLVGPE CDHPKIKPSS SANAIYSLAA RPLPVPKLPP GEQCEGEEDT EYMTPSSRPL
RPLDTSQSSR ACDCDQQIDS CTYEAMYNIQ SQAPSITESS TFGEGNLAAA HANTGPEESE
NEDDGYDVPK PPVPAVLARR TLSDISNASS SFGWLSLDGD PTTNVTEGSQ VPERPPKPFP
RRINSERKAG SCQQGSGPAA SAATASPQLS SEIENLMSQG YSYQDIQKAL VIAQNNIEMA
KNILREFVSI SSPAHVAT*

Position of stopcodon in wt / mu CDS

2589 / 2577

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

863 / 859

Position of stopcodon in wt / mu cDNA

2707 / 2695

Position of start ATG in wt / mu cDNA

119 / 119

Last intron/exon boundary

2420

Theoretical NMD boundary in CDS

2251

Length of CDS

2589

Coding sequence (CDS) position

105 / 118

cDNA position

223 / 236

gDNA position

225 / 238

Chromosomal position

119206522 / 119206535

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

Back to summary table

MutationT@ster 2025

Variant:

11:119206522GCACCACCACCAC>G_3_ENST00000264033

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: complex_aae
Tree vote: 6|4 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr11:119206523_119206534delCACCACCACCAC (GRCh38)

Gene symbol

CBL

Gene constraints

LOEUF: 0.62, LOF (oe): 0.48, misssense (oe): 0.86, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000264033.6

Genbank transcript ID

NM_005188 (exact from MANE)

UniProt / AlphaMissense peptide

CBL_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.106_117delCACCACCACCAC
g.226_237delCACCACCACCAC

AA changes

deletion of more than 2 AA

AAE:	H36-	H37-	H38-	H39-	?
Score:	-	-	-	-

Frameshift

No

Length of protein

Deletion of more than 2 AA

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs373212940
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		36	L	I	G	L	M	K	D	A	F	Q	P	H	H	H	H	H	H	H	L	S	P	H	P	P	G	T	V
mutated	partly conserved	36	L	I	G	L	M	K	D	A	F	Q	P	H	H	H	-	-	-	-	L	S	P	H	P	P	G	T
Ptroglodytes	all identical	36	L	I	G	L	M	K	D	A	F	Q	P	H	H	H	H	H	H	H	L	S	P	H	P	P	G	T
Mmulatta	all identical	36	L	I	G	L	M	K	D	A	F	Q	P	H	H	H	H	H	HH	H	L	S	P	H	P	P	G	T
Fcatus	all identical	36	L	I	G	L	M	K	D	A	F	Q	P	H	H	H	H	H	H	H	L	S	P	H	P	P	G	T
Mmusculus	all identical	36	L	I	G	L	M	K	D	A	F	Q	P	H	H	H	H	H	H	-	L	S	P	H	P	P	C	T
Ggallus	all identical	23	L	I	G	L	M	K	D	A	F	Q	P	H	H	H	H	-	-	-	L	G	P	H	Q	P	G	A
Trubripes	all identical	898	L	I	G	M	M	K	V	T	F	Q	P	H	H	H	H	L	H	-	-	S	H	H	Q	P	G	A
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	88	L	I	G	L	V	K	D	A	F	Q	P	H	H	H	H	-	-	-	-	P	T	A	Q	P	G	A

Protein features

Start (aa)	End (aa)	Feature	Details
1	357	REGION		lost
1	906	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.037	0.89
	1.037	0.985
	1.201	0.994
	0.437	0.997
	3.505	1
	4.3	1
	1.969	1
	5.309	1
	3.243	1
	1.196	1
	3.52	1
	5.638	1
	0.787	1
(flanking)	4.523	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

11

Strand

1

Original gDNA sequence snippet

TGAAGGACGCCTTCCAGCCGCACCACCACCACCACCACCACCTCAGCCCCCA

Altered gDNA sequence snippet

TGAAGGACGCCTTCCAGCCGCACCACCACCTCAGCCCCCA

Original cDNA sequence snippet

TGAAGGACGCCTTCCAGCCGCACCACCACCACCACCACCACCTCAGCCCCCA

Altered cDNA sequence snippet

TGAAGGACGCCTTCCAGCCGCACCACCACCTCAGCCCCCA

Wildtype AA sequence

MAGNVKKSSG AGGGSGSGGS GSGGLIGLMK DAFQPHHHHH HHLSPHPPGT VDKKMVEKCW
KLMDKVVRLC QNPKLALKNS PPYILDLLPD TYQHLRTILS RYEGKMETLG ENEYFRVFME
NLMKKTKQTI SLFKEGKERM YEENSQPRRN LTKLSLIFSH MLAELKGIFP SGLFQGDTFR
ITKADAAEFW RKAFGEKTIV PWKSFRQALH EVHPISSGLE AMALKSTIDL TCNDYISVFE
FDIFTRLFQP WSSLLRNWNS LAVTHPGYMA FLTYDEVKAR LQKFIHKPGS YIFRLSCTRL
GQWAIGYVTA DGNILQTIPH NKPLFQALID GFREGFYLFP DGRNQNPDLT GLCEPTPQDH
IKVTQEQYEL YCEMGSTFQL CKICAENDKD VKIEPCGHLM CTSCLTSWQE SEGQGCPFCR
CEIKGTEPIV VDPFDPRGSG SLLRQGAEGA PSPNYDDDDD ERADDTLFMM KELAGAKVER
PPSPFSMAPQ ASLPPVPPRL DLLPQRVCVP SSASALGTAS KAASGSLHKD KPLPVPPTLR
DLPPPPPPDR PYSVGAESRP QRRPLPCTPG DCPSRDKLPP VPSSRLGDSW LPRPIPKVPV
SAPSSSDPWT GRELTNRHSL PFSLPSQMEP RPDVPRLGST FSLDTSMSMN SSPLVGPECD
HPKIKPSSSA NAIYSLAARP LPVPKLPPGE QCEGEEDTEY MTPSSRPLRP LDTSQSSRAC
DCDQQIDSCT YEAMYNIQSQ APSITESSTF GEGNLAAAHA NTGPEESENE DDGYDVPKPP
VPAVLARRTL SDISNASSSF GWLSLDGDPT TNVTEGSQVP ERPPKPFPRR INSERKAGSC
QQGSGPAASA ATASPQLSSE IENLMSQGYS YQDIQKALVI AQNNIEMAKN ILREFVSISS
PAHVAT*

Mutated AA sequence

MAGNVKKSSG AGGGSGSGGS GSGGLIGLMK DAFQPHHHLS PHPPGTVDKK MVEKCWKLMD
KVVRLCQNPK LALKNSPPYI LDLLPDTYQH LRTILSRYEG KMETLGENEY FRVFMENLMK
KTKQTISLFK EGKERMYEEN SQPRRNLTKL SLIFSHMLAE LKGIFPSGLF QGDTFRITKA
DAAEFWRKAF GEKTIVPWKS FRQALHEVHP ISSGLEAMAL KSTIDLTCND YISVFEFDIF
TRLFQPWSSL LRNWNSLAVT HPGYMAFLTY DEVKARLQKF IHKPGSYIFR LSCTRLGQWA
IGYVTADGNI LQTIPHNKPL FQALIDGFRE GFYLFPDGRN QNPDLTGLCE PTPQDHIKVT
QEQYELYCEM GSTFQLCKIC AENDKDVKIE PCGHLMCTSC LTSWQESEGQ GCPFCRCEIK
GTEPIVVDPF DPRGSGSLLR QGAEGAPSPN YDDDDDERAD DTLFMMKELA GAKVERPPSP
FSMAPQASLP PVPPRLDLLP QRVCVPSSAS ALGTASKAAS GSLHKDKPLP VPPTLRDLPP
PPPPDRPYSV GAESRPQRRP LPCTPGDCPS RDKLPPVPSS RLGDSWLPRP IPKVPVSAPS
SSDPWTGREL TNRHSLPFSL PSQMEPRPDV PRLGSTFSLD TSMSMNSSPL VGPECDHPKI
KPSSSANAIY SLAARPLPVP KLPPGEQCEG EEDTEYMTPS SRPLRPLDTS QSSRACDCDQ
QIDSCTYEAM YNIQSQAPSI TESSTFGEGN LAAAHANTGP EESENEDDGY DVPKPPVPAV
LARRTLSDIS NASSSFGWLS LDGDPTTNVT EGSQVPERPP KPFPRRINSE RKAGSCQQGS
GPAASAATAS PQLSSEIENL MSQGYSYQDI QKALVIAQNN IEMAKNILRE FVSISSPAHV
AT*

Position of stopcodon in wt / mu CDS

2721 / 2709

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

907 / 903

Position of stopcodon in wt / mu cDNA

2800 / 2788

Position of start ATG in wt / mu cDNA

80 / 80

Last intron/exon boundary

2513

Theoretical NMD boundary in CDS

2383

Length of CDS

2721

Coding sequence (CDS) position

105 / 118

cDNA position

184 / 197

gDNA position

225 / 238

Chromosomal position

119206522 / 119206535

Speed

0.14 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