MutationT @ ster 2025

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 2874 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 72|28 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:55052400T>C (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.25, LOF (oe): 1.01, misssense (oe): 0.95, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000302118.5

Genbank transcript ID

NM_174936 (exact from MANE), NM_001407242 (by similarity), NM_001407241 (by similarity), NM_001407244 (by similarity), NM_001407247 (by similarity), NM_001407243 (by similarity), NM_001407245 (by similarity)

UniProt / AlphaMissense peptide

PCSK9_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.646T>C
g.12956T>C

AA changes

AAE:	F216L	?
Score:	22

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Hypercholesterolemia, autosomal dominant, 3

pathogenic

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		216	F	E	N	V	P	E	E	D	G	T	R	F	H	R	Q	A	S	K	C	D	S	H	G	T
mutated	not conserved	216	F	E	N	V	P	E	E	D	G	T	R	L	H	R	Q	A	S	K	C	D	S	H	G
Ptroglodytes	all identical	337	F	E	N	V	P	E	E	D	G	T	R	F	H	R	Q	A	S	K	C	D	S	H	G
Mmulatta	all identical	271	F	E	S	V	P	E	E	D	G	T	R	F	H	R	Q	A	S	K	C	D	S	H	G
Fcatus	no homologue
Mmusculus	all identical	219	F	N	S	V	P	E	E	D	G	T	R	F	H	R	Q	A	S	K	C	D	S	H	G
Ggallus	all identical	91	F	Q	N	V	P	E	E	D	S	S	R	F	H	R	Q	A	S	K	C	D	S	H	G
Trubripes	not conserved	305	F	H	K	V	P	V	E	K	G	G	G	-	H	R	E	A	S	R	C	E	S	H	G
Drerio	no homologue
Dmelanogaster	not conserved	450	S	D	P	T	P	Q	D	N	G	D	-	-	-	-	-	-	-	-	-	N	K	H	G
Celegans	not conserved	251	S	Y	D	V	N	D	R	D	N	D	P	M	P	RY	E	F	S	D	E	N	R	H	G
Xtropicalis	all identical	207	F	Q	N	V	P	E	E	D	G	T	R	F	H	R	Q	A	S	K	C	E	S	H	G

Protein features

Start (aa)	End (aa)	Feature	Details
153	692	CHAIN		lost
155	461	DOMAIN	Peptidase S8	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.228	0.991
	5.266	1
(flanking)	3.914	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

12

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

1

Original gDNA sequence snippet

CCGAGGAGGACGGGACCCGCTTCCACAGACAGGTAAGCACG

Altered gDNA sequence snippet

CCGAGGAGGACGGGACCCGCCTCCACAGACAGGTAAGCACG

Original cDNA sequence snippet

CCGAGGAGGACGGGACCCGCTTCCACAGACAGGCCAGCAAG

Altered cDNA sequence snippet

CCGAGGAGGACGGGACCCGCCTCCACAGACAGGCCAGCAAG

Wildtype AA sequence

MGTVSSRRSW WPLPLLLLLL LLLGPAGARA QEDEDGDYEE LVLALRSEED GLAEAPEHGT
TATFHRCAKD PWRLPGTYVV VLKEETHLSQ SERTARRLQA QAARRGYLTK ILHVFHGLLP
GFLVKMSGDL LELALKLPHV DYIEEDSSVF AQSIPWNLER ITPPRYRADE YQPPDGGSLV
EVYLLDTSIQ SDHREIEGRV MVTDFENVPE EDGTRFHRQA SKCDSHGTHL AGVVSGRDAG
VAKGASMRSL RVLNCQGKGT VSGTLIGLEF IRKSQLVQPV GPLVVLLPLA GGYSRVLNAA
CQRLARAGVV LVTAAGNFRD DACLYSPASA PEVITVGATN AQDQPVTLGT LGTNFGRCVD
LFAPGEDIIG ASSDCSTCFV SQSGTSQAAA HVAGIAAMML SAEPELTLAE LRQRLIHFSA
KDVINEAWFP EDQRVLTPNL VAALPPSTHG AGWQLFCRTV WSAHSGPTRM ATAVARCAPD
EELLSCSSFS RSGKRRGERM EAQGGKLVCR AHNAFGGEGV YAIARCCLLP QANCSVHTAP
PAEASMGTRV HCHQQGHVLT GCSSHWEVED LGTHKPPVLR PRGQPNQCVG HREASIHASC
CHAPGLECKV KEHGIPAPQE QVTVACEEGW TLTGCSALPG TSHVLGAYAV DNTCVVRSRD
VSTTGSTSEG AVTAVAICCR SRHLAQASQE LQ*

Mutated AA sequence

MGTVSSRRSW WPLPLLLLLL LLLGPAGARA QEDEDGDYEE LVLALRSEED GLAEAPEHGT
TATFHRCAKD PWRLPGTYVV VLKEETHLSQ SERTARRLQA QAARRGYLTK ILHVFHGLLP
GFLVKMSGDL LELALKLPHV DYIEEDSSVF AQSIPWNLER ITPPRYRADE YQPPDGGSLV
EVYLLDTSIQ SDHREIEGRV MVTDFENVPE EDGTRLHRQA SKCDSHGTHL AGVVSGRDAG
VAKGASMRSL RVLNCQGKGT VSGTLIGLEF IRKSQLVQPV GPLVVLLPLA GGYSRVLNAA
CQRLARAGVV LVTAAGNFRD DACLYSPASA PEVITVGATN AQDQPVTLGT LGTNFGRCVD
LFAPGEDIIG ASSDCSTCFV SQSGTSQAAA HVAGIAAMML SAEPELTLAE LRQRLIHFSA
KDVINEAWFP EDQRVLTPNL VAALPPSTHG AGWQLFCRTV WSAHSGPTRM ATAVARCAPD
EELLSCSSFS RSGKRRGERM EAQGGKLVCR AHNAFGGEGV YAIARCCLLP QANCSVHTAP
PAEASMGTRV HCHQQGHVLT GCSSHWEVED LGTHKPPVLR PRGQPNQCVG HREASIHASC
CHAPGLECKV KEHGIPAPQE QVTVACEEGW TLTGCSALPG TSHVLGAYAV DNTCVVRSRD
VSTTGSTSEG AVTAVAICCR SRHLAQASQE LQ*

Position of stopcodon in wt / mu CDS

2079 / 2079

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

693 / 693

Position of stopcodon in wt / mu cDNA

2369 / 2369

Position of start ATG in wt / mu cDNA

291 / 291

Last intron/exon boundary

2153

Theoretical NMD boundary in CDS

1812

Length of CDS

2079

Coding sequence (CDS) position

646

cDNA position

936

gDNA position

12956

Chromosomal position

55052400

Speed

0.05 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:

1:55052400T>C_1_ENST00000710286

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 2874 (pathogenic)

Model: simple_aae
Tree vote: 79|21 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:55052400T>C (GRCh38)

Gene symbol

Gene constraints

no data

Ensembl transcript ID

ENST00000710286.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1003T>C
g.12956T>C

AA changes

AAE:	F335L	?
Score:	22

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Hypercholesterolemia, autosomal dominant, 3

pathogenic

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		335	F	E	N	V	P	E	E	D	G	T	R	F	H	R	Q	A	S	K	C	D	S	H	G	T
mutated	not conserved	335	F	E	N	V	P	E	E	D	G	T	R	L	H	R	Q	A	S	K	C	D	S	H	G
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)	0.228	0.991
	5.266	1
(flanking)	3.914	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

12

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

1

Original gDNA sequence snippet

CCGAGGAGGACGGGACCCGCTTCCACAGACAGGTAAGCACG

Altered gDNA sequence snippet

CCGAGGAGGACGGGACCCGCCTCCACAGACAGGTAAGCACG

Original cDNA sequence snippet

CCGAGGAGGACGGGACCCGCTTCCACAGACAGGCCAGCAAG

Altered cDNA sequence snippet

CCGAGGAGGACGGGACCCGCCTCCACAGACAGGCCAGCAAG

Wildtype AA sequence

MGLWWRDLRA PGVKHPHPRR FPQRRRGAHG CRRAPPFSSG SEPGGVSQAV RLARAGRDAS
LQQRLPAPSQ DSARPFTRPA PELQLLHSPP HRKAQGAAGV DRARPLGLLA RTATSPLALM
GTVSSRRSWW PLPLLLLLLL LLGPAGARAQ EDEDGDYEEL VLALRSEEDG LAEAPEHGTT
ATFHRCAKDP WRLPGTYVVV LKEETHLSQS ERTARRLQAQ AARRGYLTKI LHVFHGLLPG
FLVKMSGDLL ELALKLPHVD YIEEDSSVFA QSIPWNLERI TPPRYRADEY QPPDGGSLVE
VYLLDTSIQS DHREIEGRVM VTDFENVPEE DGTRFHRQAS KCDSHGTHLA GVVSGRDAGV
AKGASMRSLR VLNCQGKGTV SGTLIGLEFI RKSQLVQPVG PLVVLLPLAG GYSRVLNAAC
QRLARAGVVL VTAAGNFRDD ACLYSPASAP EVITVGATNA QDQPVTLGTL GTNFGRCVDL
FAPGEDIIGA SSDCSTCFVS QSGTSQAAAH VAGIAAMMLS AEPELTLAEL RQRLIHFSAK
DVINEAWFPE DQRVLTPNLV AALPPSTHGA GWQLFCRTVW SAHSGPTRMA TAVARCAPDE
ELLSCSSFSR SGKRRGERME AQGGKLVCRA HNAFGGEGVY AIARCCLLPQ ANCSVHTAPP
AEASMGTRVH CHQQGHVLTG CSSHWEVEDL GTHKPPVLRP RGQPNQCVGH REASIHASCC
HAPGLECKVK EHGIPAPQEQ VTVACEEGWT LTGCSALPGT SHVLGAYAVD NTCVVRSRDV
STTGSTSEGA VTAVAICCRS RHLAQASQEL Q*

Mutated AA sequence

MGLWWRDLRA PGVKHPHPRR FPQRRRGAHG CRRAPPFSSG SEPGGVSQAV RLARAGRDAS
LQQRLPAPSQ DSARPFTRPA PELQLLHSPP HRKAQGAAGV DRARPLGLLA RTATSPLALM
GTVSSRRSWW PLPLLLLLLL LLGPAGARAQ EDEDGDYEEL VLALRSEEDG LAEAPEHGTT
ATFHRCAKDP WRLPGTYVVV LKEETHLSQS ERTARRLQAQ AARRGYLTKI LHVFHGLLPG
FLVKMSGDLL ELALKLPHVD YIEEDSSVFA QSIPWNLERI TPPRYRADEY QPPDGGSLVE
VYLLDTSIQS DHREIEGRVM VTDFENVPEE DGTRLHRQAS KCDSHGTHLA GVVSGRDAGV
AKGASMRSLR VLNCQGKGTV SGTLIGLEFI RKSQLVQPVG PLVVLLPLAG GYSRVLNAAC
QRLARAGVVL VTAAGNFRDD ACLYSPASAP EVITVGATNA QDQPVTLGTL GTNFGRCVDL
FAPGEDIIGA SSDCSTCFVS QSGTSQAAAH VAGIAAMMLS AEPELTLAEL RQRLIHFSAK
DVINEAWFPE DQRVLTPNLV AALPPSTHGA GWQLFCRTVW SAHSGPTRMA TAVARCAPDE
ELLSCSSFSR SGKRRGERME AQGGKLVCRA HNAFGGEGVY AIARCCLLPQ ANCSVHTAPP
AEASMGTRVH CHQQGHVLTG CSSHWEVEDL GTHKPPVLRP RGQPNQCVGH REASIHASCC
HAPGLECKVK EHGIPAPQEQ VTVACEEGWT LTGCSALPGT SHVLGAYAVD NTCVVRSRDV
STTGSTSEGA VTAVAICCRS RHLAQASQEL Q*

Position of stopcodon in wt / mu CDS

2436 / 2436

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

812 / 812

Position of stopcodon in wt / mu cDNA

2461 / 2461

Position of start ATG in wt / mu cDNA

26 / 26

Last intron/exon boundary

2245

Theoretical NMD boundary in CDS

2169

Length of CDS

2436

Coding sequence (CDS) position

1003

cDNA position

1028

gDNA position

12956

Chromosomal position

55052400

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:

1:55052400T>C_4_ENST00000713786

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 2874 (pathogenic)

Model: simple_aae
Tree vote: 79|21 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr1:55052400T>C (GRCh38)

Gene symbol

Gene constraints

no data

Ensembl transcript ID

ENST00000713786.1

Genbank transcript ID

NM_001407240 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.769T>C
g.12956T>C

AA changes

AAE:	F257L	?
Score:	22

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Hypercholesterolemia, autosomal dominant, 3

pathogenic

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		257	F	E	N	V	P	E	E	D	G	T	R	F	H	R	Q	A	S	K	C	D	S	H	G	T
mutated	not conserved	257	F	E	N	V	P	E	E	D	G	T	R	L	H	R	Q	A	S	K	C	D	S	H	G
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)	0.228	0.991
	5.266	1
(flanking)	3.914	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

12

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

1

Original gDNA sequence snippet

CCGAGGAGGACGGGACCCGCTTCCACAGACAGGTAAGCACG

Altered gDNA sequence snippet

CCGAGGAGGACGGGACCCGCCTCCACAGACAGGTAAGCACG

Original cDNA sequence snippet

CCGAGGAGGACGGGACCCGCTTCCACAGACAGGCCAGCAAG

Altered cDNA sequence snippet

CCGAGGAGGACGGGACCCGCCTCCACAGACAGGCCAGCAAG

Wildtype AA sequence

MGTVSSRRSW WPLPLLLLLL LLLGPAGARA QEDEDGDYEE LVLALRSEED GLAEAPEHGT
TATFHRCAKM EFRSCCPGWS AMVQSQLTAT SVSRVQVVLL PQPPKKLGLQ DPWRLPGTYV
VVLKEETHLS QSERTARRLQ AQAARRGYLT KILHVFHGLL PGFLVKMSGD LLELALKLPH
VDYIEEDSSV FAQSIPWNLE RITPPRYRAD EYQPPDGGSL VEVYLLDTSI QSDHREIEGR
VMVTDFENVP EEDGTRFHRQ ASKCDSHGTH LAGVVSGRDA GVAKGASMRS LRVLNCQGKG
TVSGTLIGLE FIRKSQLVQP VGPLVVLLPL AGGYSRVLNA ACQRLARAGV VLVTAAGNFR
DDACLYSPAS APEVITVGAT NAQDQPVTLG TLGTNFGRCV DLFAPGEDII GASSDCSTCF
VSQSGTSQAA AHVAGIAAMM LSAEPELTLA ELRQRLIHFS AKDVINEAWF PEDQRVLTPN
LVAALPPSTH GAGWQLFCRT VWSAHSGPTR MATAVARCAP DEELLSCSSF SRSGKRRGER
MEAQGGKLVC RAHNAFGGEG VYAIARCCLL PQANCSVHTA PPAEASMGTR VHCHQQGHVL
TGCSSHWEVE DLGTHKPPVL RPRGQPNQCV GHREASIHAS CCHAPGLECK VKEHGIPAPQ
EQVTVACEEG WTLTGCSALP GTSHVLGAYA VDNTCVVRSR DVSTTGSTSE GAVTAVAICC
RSRHLAQASQ ELQ*

Mutated AA sequence

MGTVSSRRSW WPLPLLLLLL LLLGPAGARA QEDEDGDYEE LVLALRSEED GLAEAPEHGT
TATFHRCAKM EFRSCCPGWS AMVQSQLTAT SVSRVQVVLL PQPPKKLGLQ DPWRLPGTYV
VVLKEETHLS QSERTARRLQ AQAARRGYLT KILHVFHGLL PGFLVKMSGD LLELALKLPH
VDYIEEDSSV FAQSIPWNLE RITPPRYRAD EYQPPDGGSL VEVYLLDTSI QSDHREIEGR
VMVTDFENVP EEDGTRLHRQ ASKCDSHGTH LAGVVSGRDA GVAKGASMRS LRVLNCQGKG
TVSGTLIGLE FIRKSQLVQP VGPLVVLLPL AGGYSRVLNA ACQRLARAGV VLVTAAGNFR
DDACLYSPAS APEVITVGAT NAQDQPVTLG TLGTNFGRCV DLFAPGEDII GASSDCSTCF
VSQSGTSQAA AHVAGIAAMM LSAEPELTLA ELRQRLIHFS AKDVINEAWF PEDQRVLTPN
LVAALPPSTH GAGWQLFCRT VWSAHSGPTR MATAVARCAP DEELLSCSSF SRSGKRRGER
MEAQGGKLVC RAHNAFGGEG VYAIARCCLL PQANCSVHTA PPAEASMGTR VHCHQQGHVL
TGCSSHWEVE DLGTHKPPVL RPRGQPNQCV GHREASIHAS CCHAPGLECK VKEHGIPAPQ
EQVTVACEEG WTLTGCSALP GTSHVLGAYA VDNTCVVRSR DVSTTGSTSE GAVTAVAICC
RSRHLAQASQ ELQ*

Position of stopcodon in wt / mu CDS

2202 / 2202

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

734 / 734

Position of stopcodon in wt / mu cDNA

2572 / 2572

Position of start ATG in wt / mu cDNA

371 / 371

Last intron/exon boundary

2356

Theoretical NMD boundary in CDS

1935

Length of CDS

2202

Coding sequence (CDS) position

769

cDNA position

1139

gDNA position

12956

Chromosomal position

55052400

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

MutationT@ster 2025

Variant:

1:55052400T>C_3_ENST00000673903

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 2874 (pathogenic)

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

Analysed issue

Analysis result

Variant

Chr1:55052400T>C (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.29, LOF (oe): 1.02, misssense (oe): 0.92, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000673903.1

Genbank transcript ID

NM_001407246 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.271T>C
g.12956T>C

AA changes

AAE:	F91L	?
Score:	22

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Hypercholesterolemia, autosomal dominant, 3

pathogenic

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		91	F	E	N	V	P	E	E	D	G	T	R	F	H	R	Q	A	S	K	C	D	S	H	G	T
mutated	not conserved	91	F	E	N	V	P	E	E	D	G	T	R	L	H	R	Q	A	S	K	C	D	S	H	G
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)	0.228	0.991
	5.266	1
(flanking)	3.914	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

12

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

1

Original gDNA sequence snippet

CCGAGGAGGACGGGACCCGCTTCCACAGACAGGTAAGCACG

Altered gDNA sequence snippet

CCGAGGAGGACGGGACCCGCCTCCACAGACAGGTAAGCACG

Original cDNA sequence snippet

CCGAGGAGGACGGGACCCGCTTCCACAGACAGGCCAGCAAG

Altered cDNA sequence snippet

CCGAGGAGGACGGGACCCGCCTCCACAGACAGGCCAGCAAG

Wildtype AA sequence

MSGDLLELAL KLPHVDYIEE DSSVFAQSIP WNLERITPPR YRADEYQPPD GGSLVEVYLL
DTSIQSDHRE IEGRVMVTDF ENVPEEDGTR FHRQASKCDS HGTHLAGVVS GRDAGVAKGA
SMRSLRVLNC QGKGTVSGTL IGLEFIRKSQ LVQPVGPLVV LLPLAGGYSR VLNAACQRLA
RAGVVLVTAA GNFRDDACLY SPASAPEVIT VGATNAQDQP VTLGTLGTNF GRCVDLFAPG
EDIIGASSDC STCFVSQSGT SQAAAHVAGI AAMMLSAEPE LTLAELRQRL IHFSAKDVIN
EAWFPEDQRV LTPNLVAALP PSTHGAGWQL FCRTVWSAHS GPTRMATAVA RCAPDEELLS
CSSFSRSGKR RGERMEAQGG KLVCRAHNAF GGEGVYAIAR CCLLPQANCS VHTAPPAEAS
MGTRVHCHQQ GHVLTGCSSH WEVEDLGTHK PPVLRPRGQP NQCVGHREAS IHASCCHAPG
LECKVKEHGI PAPQEQVTVA CEEGWTLTGC SALPGTSHVL GAYAVDNTCV VRSRDVSTTG
STSEGAVTAV AICCRSRHLA QASQELQ*

Mutated AA sequence

MSGDLLELAL KLPHVDYIEE DSSVFAQSIP WNLERITPPR YRADEYQPPD GGSLVEVYLL
DTSIQSDHRE IEGRVMVTDF ENVPEEDGTR LHRQASKCDS HGTHLAGVVS GRDAGVAKGA
SMRSLRVLNC QGKGTVSGTL IGLEFIRKSQ LVQPVGPLVV LLPLAGGYSR VLNAACQRLA
RAGVVLVTAA GNFRDDACLY SPASAPEVIT VGATNAQDQP VTLGTLGTNF GRCVDLFAPG
EDIIGASSDC STCFVSQSGT SQAAAHVAGI AAMMLSAEPE LTLAELRQRL IHFSAKDVIN
EAWFPEDQRV LTPNLVAALP PSTHGAGWQL FCRTVWSAHS GPTRMATAVA RCAPDEELLS
CSSFSRSGKR RGERMEAQGG KLVCRAHNAF GGEGVYAIAR CCLLPQANCS VHTAPPAEAS
MGTRVHCHQQ GHVLTGCSSH WEVEDLGTHK PPVLRPRGQP NQCVGHREAS IHASCCHAPG
LECKVKEHGI PAPQEQVTVA CEEGWTLTGC SALPGTSHVL GAYAVDNTCV VRSRDVSTTG
STSEGAVTAV AICCRSRHLA QASQELQ*

Position of stopcodon in wt / mu CDS

1704 / 1704

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

568 / 568

Position of stopcodon in wt / mu cDNA

1981 / 1981

Position of start ATG in wt / mu cDNA

278 / 278

Last intron/exon boundary

1765

Theoretical NMD boundary in CDS

1437

Length of CDS

1704

Coding sequence (CDS) position

271

cDNA position

548

gDNA position

12956

Chromosomal position

55052400

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