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: ENST00000579122
Querying Taster for transcript #2: ENST00000304494
Querying Taster for transcript #3: ENST00000579755
Querying Taster for transcript #4: ENST00000578845
Querying Taster for transcript #5: ENST00000530628
Querying Taster for transcript #6: ENST00000498124
Querying Taster for transcript #7: ENST00000498628
Querying Taster for transcript #8: ENST00000494262
Querying Taster for transcript #9: ENST00000479692
Querying Taster for transcript #10: ENST00000497750
MT speed 0.38 s - this script 2.868551 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Amino acid changes	Variant type	Protein length	Features at a glance
ENST00000498124	CDKN2A	Deleterious	10\|0	complex_aae	No	A102Gfs*43	Deletion	NMD	Amino acid sequence changed Frameshift NMD Protein features (might be) affected
ENST00000497750	CDKN2A	Deleterious	7\|3	complex_aae	No	A51Gfs*43	Deletion	Strongly truncated protein, might cause NMD (-12 AA / more than 10% missing)	Amino acid sequence changed Frameshift Truncated protein (might cause NMD)
ENST00000304494(MANE Select)	CDKN2A	Deleterious	8\|2	complex_aae	No	A102Gfs*43	Deletion	Slightly truncated protein, might cause NMD (-13 AA / less than 10% missing)	Amino acid sequence changed Frameshift Protein features (might be) affected Truncated protein (might cause NMD)
ENST00000578845	CDKN2A	Deleterious	8\|2	complex_aae	No	A51Gfs*43	Deletion	Strongly truncated protein, might cause NMD (-13 AA / more than 10% missing)	Amino acid sequence changed Frameshift Protein features (might be) affected Truncated protein (might cause NMD)
ENST00000479692	CDKN2A	Deleterious	8\|2	complex_aae	No	A51Gfs*43	Deletion	Strongly truncated protein, might cause NMD (-29 AA / more than 10% missing)	Amino acid sequence changed Frameshift Truncated protein (might cause NMD)
ENST00000498628	CDKN2A	Deleterious	8\|2	complex_aae	No	A51Gfs*43	Deletion	Strongly truncated protein, might cause NMD (-13 AA / more than 10% missing)	Amino acid sequence changed Frameshift Protein features (might be) affected Truncated protein (might cause NMD)
ENST00000494262	CDKN2A	Deleterious	8\|2	complex_aae	No	A51Gfs*43	Deletion	Strongly truncated protein, might cause NMD (-13 AA / more than 10% missing)	Amino acid sequence changed Frameshift Protein features (might be) affected Truncated protein (might cause NMD)
ENST00000579122	CDKN2A	Deleterious	10\|0	complex_aae	No	A102Gfs*30	Deletion	Slightly truncated protein, might cause NMD (-8 AA / less than 10% missing)	Amino acid sequence changed Frameshift Truncated protein (might cause NMD)
ENST00000579755(MANE Select)	CDKN2A	Deleterious	10\|0	complex_aae	No	original stopcodon lost	Deletion	Prolonged protein (+37 AA)	Amino acid sequence changed Prolonged protein Protein features (might be) affected
ENST00000530628	CDKN2A	Deleterious	10\|0	complex_aae	No	original stopcodon lost	Deletion	Prolonged protein (+19 AA)	Amino acid sequence changed Prolonged protein Protein features (might be) affected

MutationT@ster 2025

Variant:

9:21971050CCGCG>C_6_ENST00000498124

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to NMD

Analysed issue

Analysis result

Variant

Chr9:21971051_21971054delCGCG (GRCh38)

Gene symbol

CDKN2A

Gene constraints

LOEUF: 1.03, LOF (oe): 0.52, misssense (oe): 1.24, synonymous (oe): 1.25 ? (gnomAD)

Ensembl transcript ID

ENST00000498124.1

Genbank transcript ID

NM_001195132 (by similarity)

UniProt / AlphaMissense peptide

CDN2A_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.305_308delCGCG
g.24248_24251delCGCG

AA changes

A102Gfs*43

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		102	L	D	T	L	V	V	L	H	R	A	G	A	R	L	D	V	R	D	A	W	G	R	L	P	V	D	L	A	E	E	L	G	H	R	D	V	A	R	Y
mutated	partly conserved	36	V	E	E	V	R	A	L	L	E	A	G	A	L	P	N	A	P	N	S	Y	G	R	R	P	I	Q	V
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	156	CHAIN		lost
77	106	REPEAT	ANK	lost
109	111	STRAND		lost
110	139	REPEAT	ANK	lost
114	121	HELIX		lost
124	130	HELIX		lost
133	135	TURN		lost
140	140	MOD_RES	Phosphoserine	lost
141	143	TURN		lost
145	147	STRAND		lost
150	153	STRAND		lost
152	152	MOD_RES	Phosphoserine	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.639	0.187
	0.443	0.007
	0.775	0.003
	-2.603	0
	9.225	1
(flanking)	7.303	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

9

Strand

-1

Original gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Original cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Wildtype AA sequence

MEPAAGSSME PSADWLATAA ARGRVEEVRA LLEAGALPNA PNSYGRRPIQ VMMMGSARVA
ELLLLHGAEP NCADPATLTR PVHDAAREGF LDTLVVLHRA GARLDVRDAW GRLPVDLAEE
LGHRDVARYL RAAAGGTRGS NHARIDAAEG PSEMIGNHLW VCRSRHA*

Mutated AA sequence

MEPAAGSSME PSADWLATAA ARGRVEEVRA LLEAGALPNA PNSYGRRPIQ VMMMGSARVA
ELLLLHGAEP NCADPATLTR PVHDAAREGF LDTLVVLHRA GGWTCAMPGA VCPWTWLRSW
AIAMSHGTCA RLRGAPEAVT MPA*

Position of stopcodon in wt / mu CDS

504 / 432

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

168 / 144

Position of stopcodon in wt / mu cDNA

543 / 471

Position of start ATG in wt / mu cDNA

40 / 40

Last intron/exon boundary

693

Theoretical NMD boundary in CDS

603

Length of CDS

504

Coding sequence (CDS) position

304 / 309

cDNA position

343 / 348

gDNA position

24247 / 24252

Chromosomal position

21971050 / 21971055

Speed

0.07 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:

9:21971050CCGCG>C_10_ENST00000497750

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 7|3 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:21971051_21971054delCGCG (GRCh38)

Gene symbol

CDKN2A

Gene constraints

LOEUF: 1.85, LOF (oe): 0.00, misssense (oe): 1.26, synonymous (oe): 1.23 ? (gnomAD)

Ensembl transcript ID

ENST00000497750.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.152_155delCGCG
g.24248_24251delCGCG

AA changes

A51Gfs*43

Frameshift

Yes

Length of protein

Strongly truncated protein, might cause NMD (-12 AA / more than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		51	L	D	T	L	V	V	L	H	R	A	G	A	R	L	D	V	R	D	A	W	G	R	L	P
mutated	no alignment	n/a
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)	0.639	0.187
	0.443	0.007
	0.775	0.003
	-2.603	0
	9.225	1
(flanking)	7.303	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

9

Strand

-1

Original gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Original cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Wildtype AA sequence

MMMGSARVAE LLLLHGAEPN CADPATLTRP VHDAAREGFL DTLVVLHRAG ARLDVRDAWG
RLPVDLAEEL GHRDVARYLR AAAGGTRGSN HARIDAAEGP SGED*

Mutated AA sequence

MMMGSARVAE LLLLHGAEPN CADPATLTRP VHDAAREGFL DTLVVLHRAG GWTCAMPGAV
CPWTWLRSWA IAMSHGTCAR LRGAPEAVTM PA*

Position of stopcodon in wt / mu CDS

315 / 279

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

105 / 93

Position of stopcodon in wt / mu cDNA

390 / 354

Position of start ATG in wt / mu cDNA

76 / 76

Last intron/exon boundary

72

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

315

Coding sequence (CDS) position

151 / 156

cDNA position

226 / 231

gDNA position

24247 / 24252

Chromosomal position

21971050 / 21971055

Speed

0.03 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:

9:21971050CCGCG>C_2_ENST00000304494

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Protein features (might be) affected
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 8|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:21971051_21971054delCGCG (GRCh38)

Gene symbol

CDKN2A

Gene constraints

LOEUF: 0.79, LOF (oe): 0.31, misssense (oe): 1.25, synonymous (oe): 1.22 ? (gnomAD)

Ensembl transcript ID

ENST00000304494.10

Genbank transcript ID

NM_000077 (exact from MANE)

UniProt / AlphaMissense peptide

CDN2A_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.305_308delCGCG
g.24248_24251delCGCG

AA changes

A102Gfs*43

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-13 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		102	L	D	T	L	V	V	L	H	R	A	G	A	R	L	D	V	R	D	A	W	G	R	L	P	V	D	L	A	E	E	L	G	H	R	D	V	A	R	Y	L	R	A	A	A	G	G	T	R	G	S	N	H	A
mutated	partly conserved	36	V	E	E	V	R	A	L	L	E	A	G	A	L	P	N	A	P	N	S	Y	G	R	R	P	I	Q	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	partly conserved	99	L	D	T	L	A	A	L	H	R	A	G	A	R	L	D	L	P	D	G	R	G	R	L	P	I	D	V	A	A	G	G	P	H	G	P	V	G	C	Y	L	R
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	partly conserved	94	L	D	T	L	L	V	L	L	N	N	G	A	S	LY	E	P	R	D	N	F	G	Q	R	P	I	D	L	A

Protein features

Start (aa)	End (aa)	Feature	Details
1	156	CHAIN		lost
77	106	REPEAT	ANK	lost
109	111	STRAND		lost
110	139	REPEAT	ANK	lost
114	121	HELIX		lost
124	130	HELIX		lost
133	135	TURN		lost
140	140	MOD_RES	Phosphoserine	lost
141	143	TURN		lost
145	147	STRAND		lost
150	153	STRAND		lost
152	152	MOD_RES	Phosphoserine	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.639	0.187
	0.443	0.007
	0.775	0.003
	-2.603	0
	9.225	1
(flanking)	7.303	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

9

Strand

-1

Original gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Original cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Wildtype AA sequence

MEPAAGSSME PSADWLATAA ARGRVEEVRA LLEAGALPNA PNSYGRRPIQ VMMMGSARVA
ELLLLHGAEP NCADPATLTR PVHDAAREGF LDTLVVLHRA GARLDVRDAW GRLPVDLAEE
LGHRDVARYL RAAAGGTRGS NHARIDAAEG PSDIPD*

Mutated AA sequence

MEPAAGSSME PSADWLATAA ARGRVEEVRA LLEAGALPNA PNSYGRRPIQ VMMMGSARVA
ELLLLHGAEP NCADPATLTR PVHDAAREGF LDTLVVLHRA GGWTCAMPGA VCPWTWLRSW
AIAMSHGTCA RLRGAPEAVT MPA*

Position of stopcodon in wt / mu CDS

471 / 432

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

157 / 144

Position of stopcodon in wt / mu cDNA

501 / 462

Position of start ATG in wt / mu cDNA

31 / 31

Last intron/exon boundary

487

Theoretical NMD boundary in CDS

406

Length of CDS

471

Coding sequence (CDS) position

304 / 309

cDNA position

334 / 339

gDNA position

24247 / 24252

Chromosomal position

21971050 / 21971055

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:

9:21971050CCGCG>C_4_ENST00000578845

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Protein features (might be) affected
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 8|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:21971051_21971054delCGCG (GRCh38)

Gene symbol

CDKN2A

Gene constraints

LOEUF: 1.30, LOF (oe): 0.42, misssense (oe): 1.24, synonymous (oe): 1.27 ? (gnomAD)

Ensembl transcript ID

ENST00000578845.2

Genbank transcript ID

UniProt / AlphaMissense peptide

CDN2A_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.152_155delCGCG
g.24248_24251delCGCG

AA changes

A51Gfs*43

Frameshift

Yes

Length of protein

Strongly truncated protein, might cause NMD (-13 AA / more than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		51	L	D	T	L	V	V	L	H	R	A	G	A	R	L	D	V	R	D	A	W	G	R	L	P
mutated	no alignment	n/a
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	156	CHAIN		lost
44	72	REPEAT	ANK	lost
57	64	HELIX		lost
65	67	TURN		lost
75	77	TURN		lost
77	106	REPEAT	ANK	lost
81	88	HELIX		lost
91	100	HELIX		lost
109	111	STRAND		lost
110	139	REPEAT	ANK	lost
114	121	HELIX		lost
124	130	HELIX		lost
133	135	TURN		lost
140	140	MOD_RES	Phosphoserine	lost
141	143	TURN		lost
145	147	STRAND		lost
150	153	STRAND		lost
152	152	MOD_RES	Phosphoserine	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.639	0.187
	0.443	0.007
	0.775	0.003
	-2.603	0
	9.225	1
(flanking)	7.303	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

9

Strand

-1

Original gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Original cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Wildtype AA sequence

MMMGSARVAE LLLLHGAEPN CADPATLTRP VHDAAREGFL DTLVVLHRAG ARLDVRDAWG
RLPVDLAEEL GHRDVARYLR AAAGGTRGSN HARIDAAEGP SDIPD*

Mutated AA sequence

MMMGSARVAE LLLLHGAEPN CADPATLTRP VHDAAREGFL DTLVVLHRAG GWTCAMPGAV
CPWTWLRSWA IAMSHGTCAR LRGAPEAVTM PA*

Position of stopcodon in wt / mu CDS

318 / 279

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

106 / 93

Position of stopcodon in wt / mu cDNA

445 / 406

Position of start ATG in wt / mu cDNA

128 / 128

Last intron/exon boundary

431

Theoretical NMD boundary in CDS

253

Length of CDS

318

Coding sequence (CDS) position

151 / 156

cDNA position

278 / 283

gDNA position

24247 / 24252

Chromosomal position

21971050 / 21971055

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:

9:21971050CCGCG>C_9_ENST00000479692

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 8|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:21971051_21971054delCGCG (GRCh38)

Gene symbol

CDKN2A

Gene constraints

LOEUF: 1.62, LOF (oe): 0.57, misssense (oe): 1.27, synonymous (oe): 1.25 ? (gnomAD)

Ensembl transcript ID

ENST00000479692.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.152_155delCGCG
g.24248_24251delCGCG

AA changes

A51Gfs*43

Frameshift

Yes

Length of protein

Strongly truncated protein, might cause NMD (-29 AA / more than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		51	L	D	T	L	V	V	L	H	R	A	G	A	R	L	D	V	R	D	A	W	G	R	L	P
mutated	no alignment	n/a
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)	0.639	0.187
	0.443	0.007
	0.775	0.003
	-2.603	0
	9.225	1
(flanking)	7.303	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

9

Strand

-1

Original gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Original cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Wildtype AA sequence

MMMGSARVAE LLLLHGAEPN CADPATLTRP VHDAAREGFL DTLVVLHRAG ARLDVRDAWG
RLPVDLAEEL GHRDVARYLR AAAGGTRGSN HARIDAAEGP SVTASIQVPG GEEGDFGSSY
S*

Mutated AA sequence

MMMGSARVAE LLLLHGAEPN CADPATLTRP VHDAAREGFL DTLVVLHRAG GWTCAMPGAV
CPWTWLRSWA IAMSHGTCAR LRGAPEAVTM PA*

Position of stopcodon in wt / mu CDS

366 / 279

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

122 / 93

Position of stopcodon in wt / mu cDNA

381 / 294

Position of start ATG in wt / mu cDNA

16 / 16

Last intron/exon boundary

319

Theoretical NMD boundary in CDS

253

Length of CDS

366

Coding sequence (CDS) position

151 / 156

cDNA position

166 / 171

gDNA position

24247 / 24252

Chromosomal position

21971050 / 21971055

Speed

0.03 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:

9:21971050CCGCG>C_7_ENST00000498628

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Protein features (might be) affected
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 8|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:21971051_21971054delCGCG (GRCh38)

Gene symbol

CDKN2A

Gene constraints

LOEUF: 1.30, LOF (oe): 0.42, misssense (oe): 1.24, synonymous (oe): 1.27 ? (gnomAD)

Ensembl transcript ID

ENST00000498628.6

Genbank transcript ID

NM_001363763 (by similarity)

UniProt / AlphaMissense peptide

CDN2A_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.152_155delCGCG
g.24248_24251delCGCG

AA changes

A51Gfs*43

Frameshift

Yes

Length of protein

Strongly truncated protein, might cause NMD (-13 AA / more than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		51	L	D	T	L	V	V	L	H	R	A	G	A	R	L	D	V	R	D	A	W	G	R	L	P
mutated	no alignment	n/a
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	156	CHAIN		lost
44	72	REPEAT	ANK	lost
57	64	HELIX		lost
65	67	TURN		lost
75	77	TURN		lost
77	106	REPEAT	ANK	lost
81	88	HELIX		lost
91	100	HELIX		lost
109	111	STRAND		lost
110	139	REPEAT	ANK	lost
114	121	HELIX		lost
124	130	HELIX		lost
133	135	TURN		lost
140	140	MOD_RES	Phosphoserine	lost
141	143	TURN		lost
145	147	STRAND		lost
150	153	STRAND		lost
152	152	MOD_RES	Phosphoserine	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.639	0.187
	0.443	0.007
	0.775	0.003
	-2.603	0
	9.225	1
(flanking)	7.303	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

9

Strand

-1

Original gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Original cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Wildtype AA sequence

MMMGSARVAE LLLLHGAEPN CADPATLTRP VHDAAREGFL DTLVVLHRAG ARLDVRDAWG
RLPVDLAEEL GHRDVARYLR AAAGGTRGSN HARIDAAEGP SDIPD*

Mutated AA sequence

MMMGSARVAE LLLLHGAEPN CADPATLTRP VHDAAREGFL DTLVVLHRAG GWTCAMPGAV
CPWTWLRSWA IAMSHGTCAR LRGAPEAVTM PA*

Position of stopcodon in wt / mu CDS

318 / 279

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

106 / 93

Position of stopcodon in wt / mu cDNA

802 / 763

Position of start ATG in wt / mu cDNA

485 / 485

Last intron/exon boundary

788

Theoretical NMD boundary in CDS

253

Length of CDS

318

Coding sequence (CDS) position

151 / 156

cDNA position

635 / 640

gDNA position

24247 / 24252

Chromosomal position

21971050 / 21971055

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:

9:21971050CCGCG>C_8_ENST00000494262

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Protein features (might be) affected
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 8|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:21971051_21971054delCGCG (GRCh38)

Gene symbol

CDKN2A

Gene constraints

LOEUF: 1.30, LOF (oe): 0.42, misssense (oe): 1.24, synonymous (oe): 1.27 ? (gnomAD)

Ensembl transcript ID

ENST00000494262.5

Genbank transcript ID

UniProt / AlphaMissense peptide

CDN2A_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.152_155delCGCG
g.24248_24251delCGCG

AA changes

A51Gfs*43

Frameshift

Yes

Length of protein

Strongly truncated protein, might cause NMD (-13 AA / more than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		51	L	D	T	L	V	V	L	H	R	A	G	A	R	L	D	V	R	D	A	W	G	R	L	P
mutated	no alignment	n/a
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	156	CHAIN		lost
44	72	REPEAT	ANK	lost
57	64	HELIX		lost
65	67	TURN		lost
75	77	TURN		lost
77	106	REPEAT	ANK	lost
81	88	HELIX		lost
91	100	HELIX		lost
109	111	STRAND		lost
110	139	REPEAT	ANK	lost
114	121	HELIX		lost
124	130	HELIX		lost
133	135	TURN		lost
140	140	MOD_RES	Phosphoserine	lost
141	143	TURN		lost
145	147	STRAND		lost
150	153	STRAND		lost
152	152	MOD_RES	Phosphoserine	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.639	0.187
	0.443	0.007
	0.775	0.003
	-2.603	0
	9.225	1
(flanking)	7.303	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

9

Strand

-1

Original gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Original cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Wildtype AA sequence

MMMGSARVAE LLLLHGAEPN CADPATLTRP VHDAAREGFL DTLVVLHRAG ARLDVRDAWG
RLPVDLAEEL GHRDVARYLR AAAGGTRGSN HARIDAAEGP SDIPD*

Mutated AA sequence

MMMGSARVAE LLLLHGAEPN CADPATLTRP VHDAAREGFL DTLVVLHRAG GWTCAMPGAV
CPWTWLRSWA IAMSHGTCAR LRGAPEAVTM PA*

Position of stopcodon in wt / mu CDS

318 / 279

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

106 / 93

Position of stopcodon in wt / mu cDNA

942 / 903

Position of start ATG in wt / mu cDNA

625 / 625

Last intron/exon boundary

928

Theoretical NMD boundary in CDS

253

Length of CDS

318

Coding sequence (CDS) position

151 / 156

cDNA position

775 / 780

gDNA position

24247 / 24252

Chromosomal position

21971050 / 21971055

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:

9:21971050CCGCG>C_1_ENST00000579122

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 10|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:21971051_21971054delCGCG (GRCh38)

Gene symbol

CDKN2A

Gene constraints

LOEUF: 1.06, LOF (oe): 0.50, misssense (oe): 1.29, synonymous (oe): 1.27 ? (gnomAD)

Ensembl transcript ID

ENST00000579122.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.305_308delCGCG
g.24248_24251delCGCG

AA changes

A102Gfs*30

Frameshift

Yes

Length of protein

Slightly truncated protein, might cause NMD (-8 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		102	L	D	T	L	V	V	L	H	R	A	G	A	R	L	D	V	R	D	A	W	G	R	L	P	V	D	L	A	E	E	L	G	H	R	D	V	A	R	H
mutated	partly conserved	36	V	E	E	V	R	A	L	L	E	A	G	A	L	P	N	A	P	N	S	Y	G	R	R	P	I	Q	V
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)	0.639	0.187
	0.443	0.007
	0.775	0.003
	-2.603	0
	9.225	1
(flanking)	7.303	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

9

Strand

-1

Original gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Original cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Wildtype AA sequence

MEPAAGSSME PSADWLATAA ARGRVEEVRA LLEAGALPNA PNSYGRRPIQ VMMMGSARVA
ELLLLHGAEP NCADPATLTR PVHDAAREGF LDTLVVLHRA GARLDVRDAW GRLPVDLAEE
LGHRDVARHP RLKEPERL*

Mutated AA sequence

MEPAAGSSME PSADWLATAA ARGRVEEVRA LLEAGALPNA PNSYGRRPIQ VMMMGSARVA
ELLLLHGAEP NCADPATLTR PVHDAAREGF LDTLVVLHRA GGWTCAMPGA VCPWTWLRSW
AIAMSHDIPD *

Position of stopcodon in wt / mu CDS

417 / 393

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

139 / 131

Position of stopcodon in wt / mu cDNA

448 / 424

Position of start ATG in wt / mu cDNA

32 / 32

Last intron/exon boundary

414

Theoretical NMD boundary in CDS

332

Length of CDS

417

Coding sequence (CDS) position

304 / 309

cDNA position

335 / 340

gDNA position

24247 / 24252

Chromosomal position

21971050 / 21971055

Speed

0.03 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:

9:21971050CCGCG>C_3_ENST00000579755

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Prolonged protein
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:21971051_21971054delCGCG (GRCh38)

Gene symbol

CDKN2A

Gene constraints

LOEUF: 1.50, LOF (oe): 0.81, misssense (oe): 1.16, synonymous (oe): 1.11 ? (gnomAD)

Ensembl transcript ID

ENST00000579755.2

Genbank transcript ID

NM_058195 (exact from MANE)

UniProt / AlphaMissense peptide

ARF_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.348_351delCGCG
g.24248_24251delCGCG

AA changes

original stopcodon lost, results in prolonged protein

AAE:	A117L	A118D	G119V	A121D	R122A	C123W	L124G	G125R	P126L	S127P	A128V	R129D	G130L	P131A	G132E	*133E	-134L	-134G	-134H	-134R	-134D	-134V	-134A	-134R	-134Y	-134L	-134R	-134A	-134A	-134A	-134G	-134G	-134T	-134R	-134G	-134S	-134N	-134H	-134A	-134R	-134I	-134D	-134A	-134A	-134E	-134G	-134P	-134S	-134D	-134I	-134P	-134D	-134*	?
Score:	96	126	109	126	112	215	138	125	98	74	64	96	138	27	98	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+37 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		117	G	H	A	G	G	A	A	P	G	R	G	A	A	G	R	A	R	C	L	G	P	S	A	R	G	P	G	*
mutated	partly conserved	117	G	H	A	G	G	A	A	P	G	R	G	L	D	V	R	D	A	W	G	R	L	P	V	D	L	A	E	E	L	G	H	R	D	V	A	R	Y	L	R	A
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	132	CHAIN		lost
56	132	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.639	0.187
	0.443	0.007
	0.775	0.003
	-2.603	0
	9.225	1
(flanking)	7.303	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

9

Strand

-1

Original gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Original cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Wildtype AA sequence

MVRRFLVTLR IRRACGPPRV RVFVVHIPRL TGEWAAPGAP AAVALVLMLL RSQRLGQQPL
PRRPGHDDGQ RPSGGAAAAP RRGAQLRRPR HSHPTRARRC PGGLPGHAGG AAPGRGAAGR
ARCLGPSARG PG*

Mutated AA sequence

MVRRFLVTLR IRRACGPPRV RVFVVHIPRL TGEWAAPGAP AAVALVLMLL RSQRLGQQPL
PRRPGHDDGQ RPSGGAAAAP RRGAQLRRPR HSHPTRARRC PGGLPGHAGG AAPGRGLDVR
DAWGRLPVDL AEELGHRDVA RYLRAAAGGT RGSNHARIDA AEGPSDIPD*

Position of stopcodon in wt / mu CDS

399 / 510

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

133 / 170

Position of stopcodon in wt / mu cDNA

460 / 571

Position of start ATG in wt / mu cDNA

62 / 62

Last intron/exon boundary

561

Theoretical NMD boundary in CDS

449

Length of CDS

399

Coding sequence (CDS) position

347 / 352

cDNA position

408 / 413

gDNA position

24247 / 24252

Chromosomal position

21971050 / 21971055

Speed

0.03 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:

9:21971050CCGCG>C_5_ENST00000530628

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Prolonged protein
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:21971051_21971054delCGCG (GRCh38)

Gene symbol

CDKN2A

Gene constraints

LOEUF: 1.38, LOF (oe): 0.70, misssense (oe): 1.16, synonymous (oe): 1.11 ? (gnomAD)

Ensembl transcript ID

ENST00000530628.2

Genbank transcript ID

UniProt / AlphaMissense peptide

ARF_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.348_351delCGCG
g.24248_24251delCGCG

AA changes

original stopcodon lost, results in prolonged protein

AAE:	A117L	A118D	G119V	A121D	R122A	C123W	L124G	G125R	P126L	S127P	A128V	R129D	G130L	P131A	G132E	*133E	-134L	-134G	-134H	-134R	-134D	-134V	-134A	-134R	-134H	-134P	-134R	-134L	-134K	-134E	-134P	-134E	-134R	-134L	-134*	?
Score:	96	126	109	126	112	215	138	125	98	74	64	96	138	27	98	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-

Frameshift

No

Length of protein

Prolonged protein (+19 AA)

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		117	G	H	A	G	G	A	A	P	G	R	G	A	A	G	R	A	R	C	L	G	P	S	A	R	G	P	G	*
mutated	partly conserved	117	G	H	A	G	G	A	A	P	G	R	G	L	D	V	R	D	A	W	G	R	L	P	V	D	L	A	E	E	L	G	H	R	D	V	A	R	H	P	R	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	132	CHAIN		lost
56	132	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.639	0.187
	0.443	0.007
	0.775	0.003
	-2.603	0
	9.225	1
(flanking)	7.303	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

9

Strand

-1

Original gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered gDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Original cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCT

Altered cDNA sequence snippet

GGTGCTGCACCGGGCCGGGGGCTGGACGTGCGCGATGCCT

Wildtype AA sequence

MVRRFLVTLR IRRACGPPRV RVFVVHIPRL TGEWAAPGAP AAVALVLMLL RSQRLGQQPL
PRRPGHDDGQ RPSGGAAAAP RRGAQLRRPR HSHPTRARRC PGGLPGHAGG AAPGRGAAGR
ARCLGPSARG PG*

Mutated AA sequence

MVRRFLVTLR IRRACGPPRV RVFVVHIPRL TGEWAAPGAP AAVALVLMLL RSQRLGQQPL
PRRPGHDDGQ RPSGGAAAAP RRGAQLRRPR HSHPTRARRC PGGLPGHAGG AAPGRGLDVR
DAWGRLPVDL AEELGHRDVA RHPRLKEPER L*

Position of stopcodon in wt / mu CDS

399 / 456

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

133 / 152

Position of stopcodon in wt / mu cDNA

479 / 536

Position of start ATG in wt / mu cDNA

81 / 81

Last intron/exon boundary

506

Theoretical NMD boundary in CDS

375

Length of CDS

399

Coding sequence (CDS) position

347 / 352

cDNA position

427 / 432

gDNA position

24247 / 24252

Chromosomal position

21971050 / 21971055

Speed

0.03 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