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: ENST00000504309
Querying Taster for transcript #2: ENST00000510361
Querying Taster for transcript #3: ENST00000264932
MT speed 0.22 s - this script 3.974212 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Known ClinVar disease mutation	Amino acid changes	Variant type	Protein length	Features at a glance
ENST00000504309	SDHA	Deleterious	10\|0	complex_aae	No	Yes	D223Ifs*3	Deletion	NMD	Amino acid sequence changed Frameshift Known disease mutation: ClinVar ID 141876 (pathogenic) NMD
ENST00000510361	SDHA	Deleterious	10\|0	complex_aae	No	Yes	D175Ifs*3	Deletion	NMD	Amino acid sequence changed Frameshift Known disease mutation: ClinVar ID 141876 (pathogenic) NMD Protein features (might be) affected
ENST00000264932(MANE Select)	SDHA	Deleterious	10\|0	complex_aae	No	Yes	D223Ifs*3	Deletion	NMD	Amino acid sequence changed Frameshift Known disease mutation: ClinVar ID 141876 (pathogenic) NMD Protein features (might be) affected

MutationT@ster 2025

Variant:

5:228228TG>T_1_ENST00000504309

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 141876 (pathogenic)
NMD

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

Analysed issue

Analysis result

Variant

Chr5:228229delG (GRCh38)

Gene symbol

SDHA

Gene constraints

LOEUF: 0.83, LOF (oe): 0.62, misssense (oe): 0.78, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000504309.5

Genbank transcript ID

NM_001330758 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.666delG
g.9927delG

AA changes

D223Ifs*3

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Hereditary cancer-predisposing syndrome
SDHA-related disorder
Paragangliomas 5
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1

pathogenic

ClinVar OMIM

Variant DBs

dbSNP ID	rs587782077
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	13	13

Protein conservation

Species	Match	AA	Alignment
Human		223	D	T	S	Y	F	V	E	Y	F	A	L	D	L	L	M	E	N	G	E	C	R	G	V	I
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)	7.624	1
	5.417	1
(flanking)	9.496	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

5

Strand

1

Original gDNA sequence snippet

TTTGTGGAGTATTTTGCCTTGGATCTCCTGATGGAGAATGG

Altered gDNA sequence snippet

TTTGTGGAGTATTTTGCCTTGATCTCCTGATGGAGAATGG

Original cDNA sequence snippet

TTTGTGGAGTATTTTGCCTTGGATCTCCTGATGGAGAATGG

Altered cDNA sequence snippet

TTTGTGGAGTATTTTGCCTTGATCTCCTGATGGAGAATGG

Wildtype AA sequence

MSGVRGLSRL LSARRLALAK AWPTVLQTGT RGFHFTVDGN KRASAKVSDS ISAQYPVVDH
EFDAVVVGAG GAGLRAAFGL SEAGFNTACV TKLFPTRSHT VAAQGGINAA LGNMEEDNWR
WHFYDTVKGS DWLGDQDAIH YMTEQAPAAV VELENYGMPF SRTEDGKIYQ RAFGGQSLKF
GKGGQAHRCC CVADRTGHSL LHTLYGRSLR YDTSYFVEYF ALDLLMENGE CRGVIALCIE
DGSIHRIRAK NTVVATGGYG RTYFSCTSAH TSTGDGTAMI TRAGLPCQDL EFVQFHPTGI
YGAGCLITEG CRGEGGILIN SQGERFMERY APVAKDLASR DVVSRSMTLE IREGRGCGPE
KDHVYLQLHH LPPEQLATRL PGISETAMIF AGVDVTKEPI PVLPTVHYNM GGIPTNYKGQ
VLRHVNGQDQ IVPGLYACGE AACASVHGAN RLGANSLLDL VVFGRACALS IEESCRPGDK
VPPIKPNAGE ESVMNLDKLR FADGSIRTSE LRLSMQKVRI DEYDYSKPIQ GQQKKPFEEH
WRKHTLSYVD VGTGKVTLEY RPVIDKTLNE ADCATVPPAI RSY*

Mutated AA sequence

MSGVRGLSRL LSARRLALAK AWPTVLQTGT RGFHFTVDGN KRASAKVSDS ISAQYPVVDH
EFDAVVVGAG GAGLRAAFGL SEAGFNTACV TKLFPTRSHT VAAQGGINAA LGNMEEDNWR
WHFYDTVKGS DWLGDQDAIH YMTEQAPAAV VELENYGMPF SRTEDGKIYQ RAFGGQSLKF
GKGGQAHRCC CVADRTGHSL LHTLYGRSLR YDTSYFVEYF ALIS*

Position of stopcodon in wt / mu CDS

1752 / 675

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

584 / 225

Position of stopcodon in wt / mu cDNA

1805 / 728

Position of start ATG in wt / mu cDNA

54 / 54

Last intron/exon boundary

1718

Theoretical NMD boundary in CDS

1614

Length of CDS

1752

Coding sequence (CDS) position

665 / 667

cDNA position

718 / 720

gDNA position

9926 / 9928

Chromosomal position

228228 / 228230

Speed

0.09 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

5:228228TG>T_2_ENST00000510361

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 141876 (pathogenic)
NMD
Protein features (might be) affected

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

Analysed issue

Analysis result

Variant

Chr5:228229delG (GRCh38)

Gene symbol

SDHA

Gene constraints

LOEUF: 0.75, LOF (oe): 0.56, misssense (oe): 0.78, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000510361.5

Genbank transcript ID

NM_001294332 (by similarity)

UniProt / AlphaMissense peptide

SDHA_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.522delG
g.9927delG

AA changes

D175Ifs*3

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Hereditary cancer-predisposing syndrome
SDHA-related disorder
Paragangliomas 5
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1

pathogenic

ClinVar OMIM

Variant DBs

dbSNP ID	rs587782077
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	13	13

Protein conservation

Species	Match	AA	Alignment
Human		175	D	T	S	Y	F	V	E	Y	F	A	L	D	L	L	M	E	N	G	E	C	R	G	V	I
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
43	664	CHAIN		lost
171	178	STRAND		lost
179	179	MOD_RES	N6-acetyllysine	lost
179	179	MOD_RES	N6-succinyllysine	lost
179	182	TURN		lost
182	182	MOD_RES	N6-acetyllysine	lost
185	190	STRAND		lost
196	209	HELIX		lost
210	212	TURN		lost
214	217	STRAND		lost
215	215	MOD_RES	Phosphotyrosine	lost
219	227	STRAND		lost
221	221	BINDING	FAD	lost
230	238	STRAND		lost
239	241	TURN		lost
244	254	STRAND		lost
250	250	MOD_RES	N6-acetyllysine	lost
250	250	MOD_RES	N6-succinyllysine	lost
260	262	HELIX		lost
263	268	STRAND		lost
275	275	BINDING	FAD	lost
275	282	HELIX		lost
293	300	STRAND		lost
296	296	BINDING	oxaloacetate	lost
301	303	TURN		lost
310	313	HELIX		lost
317	319	STRAND		lost
327	330	HELIX		lost
332	334	TURN		lost
335	335	MOD_RES	N6-succinyllysine	lost
335	335	MOD_RES	N6-acetyllysine	lost
335	337	HELIX		lost
340	340	ACT_SITE		lost
340	340	BINDING	oxaloacetate	lost
340	352	HELIX		lost
358	361	TURN		lost
363	367	STRAND		lost
373	379	HELIX		lost
383	391	HELIX		lost
395	397	TURN		lost
400	409	STRAND		lost
407	407	BINDING	oxaloacetate	lost
412	415	STRAND		lost
419	425	STRAND		lost
428	437	STRAND		lost
439	441	HELIX		lost
440	440	BINDING	FAD	lost
445	447	STRAND		lost
451	451	BINDING	oxaloacetate	lost
454	454	BINDING	oxaloacetate	lost
456	456	BINDING	FAD	lost
456	474	HELIX		lost
457	457	BINDING	FAD	lost
480	480	MOD_RES	N6-acetyllysine	lost
485	485	MOD_RES	N6-succinyllysine	lost
485	485	MOD_RES	N6-acetyllysine	lost
486	489	TURN		lost
490	500	HELIX		lost
498	498	MOD_RES	N6-acetyllysine	lost
498	498	MOD_RES	N6-succinyllysine	lost
503	507	STRAND		lost
508	522	HELIX		lost
517	517	MOD_RES	N6-acetyllysine	lost
523	525	STRAND		lost
529	545	HELIX		lost
538	538	MOD_RES	N6-acetyllysine	lost
538	538	MOD_RES	N6-succinyllysine	lost
541	541	MOD_RES	N6-acetyllysine	lost
546	548	HELIX		lost
547	547	MOD_RES	N6-succinyllysine	lost
547	547	MOD_RES	N6-acetyllysine	lost
550	550	MOD_RES	N6-acetyllysine	lost
556	558	STRAND		lost
560	584	HELIX		lost
594	597	STRAND		lost
598	598	MOD_RES	N6-acetyllysine	lost
608	608	MOD_RES	N6-acetyllysine	lost
615	615	MOD_RES	N6-succinyllysine	lost
618	620	HELIX		lost
624	624	MOD_RES	N6-acetyllysine	lost
624	631	STRAND		lost
632	635	TURN		lost
636	636	MOD_RES	N6-acetyllysine	lost
636	643	STRAND		lost
647	647	MOD_RES	N6-acetyllysine	lost
651	653	TURN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.624	1
	5.417	1
(flanking)	9.496	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

5

Strand

1

Original gDNA sequence snippet

TTTGTGGAGTATTTTGCCTTGGATCTCCTGATGGAGAATGG

Altered gDNA sequence snippet

TTTGTGGAGTATTTTGCCTTGATCTCCTGATGGAGAATGG

Original cDNA sequence snippet

TTTGTGGAGTATTTTGCCTTGGATCTCCTGATGGAGAATGG

Altered cDNA sequence snippet

TTTGTGGAGTATTTTGCCTTGATCTCCTGATGGAGAATGG

Wildtype AA sequence

MSGVRGLSRL LSARRLALAK AWPTVLQTGT RGFHFTVDGN KRASAKVSDS ISAQYPVVDH
EFDAVVVGAG GAGLRAAFGL SEAGFNTACV TKLFPTRSHT VAAQLENYGM PFSRTEDGKI
YQRAFGGQSL KFGKGGQAHR CCCVADRTGH SLLHTLYGRS LRYDTSYFVE YFALDLLMEN
GECRGVIALC IEDGSIHRIR AKNTVVATGG YGRTYFSCTS AHTSTGDGTA MITRAGLPCQ
DLEFVQFHPT GIYGAGCLIT EGCRGEGGIL INSQGERFME RYAPVAKDLA SRDVVSRSMT
LEIREGRGCG PEKDHVYLQL HHLPPEQLAT RLPGISETAM IFAGVDVTKE PIPVLPTVHY
NMGGIPTNYK GQVLRHVNGQ DQIVPGLYAC GEAACASVHG ANRLGANSLL DLVVFGRACA
LSIEESCRPG DKVPPIKPNA GEESVMNLDK LRFADGSIRT SELRLSMQKS MQNHAAVFRV
GSVLQEGCGK ISKLYGDLKH LKTFDRGMVW NTDLVETLEL QNLMLCALQT IYGAEARKES
RGAHAREDYK VRIDEYDYSK PIQGQQKKPF EEHWRKHTLS YVDVGTGKVT LEYRPVIDKT
LNEADCATVP PAIRSY*

Mutated AA sequence

MSGVRGLSRL LSARRLALAK AWPTVLQTGT RGFHFTVDGN KRASAKVSDS ISAQYPVVDH
EFDAVVVGAG GAGLRAAFGL SEAGFNTACV TKLFPTRSHT VAAQLENYGM PFSRTEDGKI
YQRAFGGQSL KFGKGGQAHR CCCVADRTGH SLLHTLYGRS LRYDTSYFVE YFALIS*

Position of stopcodon in wt / mu CDS

1851 / 531

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

617 / 177

Position of stopcodon in wt / mu cDNA

1889 / 569

Position of start ATG in wt / mu cDNA

39 / 39

Last intron/exon boundary

1802

Theoretical NMD boundary in CDS

1713

Length of CDS

1851

Coding sequence (CDS) position

521 / 523

cDNA position

559 / 561

gDNA position

9926 / 9928

Chromosomal position

228228 / 228230

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

Back to summary table

MutationT@ster 2025

Variant:

5:228228TG>T_3_ENST00000264932

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 141876 (pathogenic)
NMD
Protein features (might be) affected

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

Analysed issue

Analysis result

Variant

Chr5:228229delG (GRCh38)

Gene symbol

SDHA

Gene constraints

LOEUF: 0.79, LOF (oe): 0.60, misssense (oe): 0.78, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000264932.11

Genbank transcript ID

NM_004168 (exact from MANE)

UniProt / AlphaMissense peptide

SDHA_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.666delG
g.9927delG

AA changes

D223Ifs*3

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Hereditary cancer-predisposing syndrome
SDHA-related disorder
Paragangliomas 5
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1

pathogenic

ClinVar OMIM

Variant DBs

dbSNP ID	rs587782077
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	13	13

Protein conservation

Species	Match	AA	Alignment
Human		223	D	T	S	Y	F	V	E	Y	F	A	L	D	L	L	M	E	N	G	E	C	R	G	V	I	A	L	C	I	E	D	G	S	I	H	R	I	R	A	K	N	T	V	V	A	T	G	G	Y	G	R	T	Y	F	S	C	T	S	A	H	T	S	T	G	D	G	T	A	M	I	T	R	A	G	L	P	C	Q	D	L	E	F	V	Q	F	H	P	T	G	I	Y	G	A	G	C	L	I	T	E	G	C	R	G	E	G	G	I	L	I	N	S	Q	G	E	R	F	M	E	R	Y	A	P	V	A	K	D	L	A	S	R	D	V	V	S	R	S	M	T	L	E	I	R	E	G
mutated	no alignment	n/a
Ptroglodytes	all identical	223	D	T	S	Y	F	V	E	Y	F	A	L	D	L	L	M	E	N	G	E	C	R	G	V	I	A	L	C	I	E	D	G	S	I	H	R	I	R	A	K	N	T	V	V	A	T	G	G	Y	G	R	T	Y	F	S	C	T	S	A	H	T	S	T	G	D	G	T	A	M	I	T	R	A	G	L	P	C	Q	D	L	E	F	V	Q	F	H	P	T	G	I
Mmulatta	all conserved	264	D	T	S	Y	F	V	E	Y	F	A	L	D	L	L	M	E	D	G	E	C	R	G	V	I	A	L	C	I	E	D	G	S	I	H	R	I	R	A	K	N	T	V	V	A	T	G	G	Y	G	R	T	Y	F	S	C	T	S	A	H	T	S	T	G	D	G	T	A	M	I	T	R	A	G	L	P	C	Q	D	L	E	F	V	Q	F
Fcatus	all conserved	224	D	T	S	Y	F	V	E	Y	F	A	L	D	L	L	M	E	N	G	E	C	R	G	V	I	A	L	C	I	E	D	G	S	I	H	R	I	R	A	K	N	T	V	V	A	T	G	G	Y	G	R	T	Y	F	S	C	T	S	A	H	T	S	T	G	D	G	T	A	M	V	T	R	A	G	L	P	C	Q	D	L	E	F	V	Q	F	H	P	T	G
Mmusculus	all conserved	223	D	T	S	Y	F	V	E	Y	F	A	L	D	L	L	M	E	N	G	E	C	R	G	V	I	A	L	C	I	E	D	G	S	I	H	R	I	R	A	K	N	T	V	I	A	T	G	G	Y	G	R	T	Y	F	S	C	T	S	A	H	T	S	T	G	D	G	T	A	M	V	T	R	A	G	L	P	C	Q	D	L	E	F	V	Q	F	H	P	T	G	I
Ggallus	partly conserved	224	D	T	S	Y	F	V	E	Y	F	A	L	D	L	L	M	E	N	G	E	C	R	G	V	I	A	L	C	I	E	D	G	T	I	H	R	F	R	A	K	N	T	V	I	A	T	G	G	Y	G	R	T	Y	F	S	C	T	S	A	H	T	S	T	G	D	G	T	A	M	V	T	R	A	G	L	P	C	Q	D	L	E	F	V	Q	F	H	P	T	G
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	partly conserved	871	D	C	N	Y	F	V	E	Y	F	A	L	D	L	I	F	E	D	G	E	C	R	G	V	L	A	L	N	L	E	D	G	T	L	H	R	F	R	A	K	N	T	V	I	A	T	G	G	Y	G	R	A	F	F	S	C	T	S	A	H	T	C	T	G	D	G	T	A	M	V	A	R	Q	G	L	P	S	Q	D	L	E	F	V	Q	F	H	P	T	G
Celegans	partly conserved	204												D	L	I	M	E	N	G	V	C	V	G	V	I	A	M	D	L	E	D	G	T	I	H	R	F	R	S	K	N	T	V	L	A	T	G	G	Y	G	R	A	F	F	S	C	T	S	A	H	T	C	T	G	D	G	T	A	L	T	A	R	A	G	I	N	N	S	D	M	E	F	V	Q	F	H	P	T	G	I	Y	G	A	G	C	L	I	T	E	G	S	R	G	E	G	G	Y	L	V	N	S	A	G	E	R	F	M	E	R	Y	A	P	N	A	K	D	L	A	S	R	D	V
Xtropicalis	partly conserved	229	D	T	S	Y	F	V	E	Y	F	A	L	D	L	L	M	E	N	G	E	C	R	G	V	I	A	L	C	M	E	D	G	S	I	H	R	F	R	A	K	N	T	V	I	A	T	G	G	Y	G	R	T	F	F	S	C	T	S	A	H	T	C	T	G	D	G	T	A	M	V	T	R	A	G	L	P	C	Q	D	L	E	F	V	Q	F	H	P	T	G	I	Y	G	A	G	C	L	I	T	E	G	C	R	G	E	G	G	I	L	I	N	S	E	G	E	R	F	M	E	R

Protein features

Start (aa)	End (aa)	Feature	Details
43	664	CHAIN		lost
219	227	STRAND		lost
230	238	STRAND		lost
239	241	TURN		lost
244	254	STRAND		lost
250	250	MOD_RES	N6-acetyllysine	lost
250	250	MOD_RES	N6-succinyllysine	lost
260	262	HELIX		lost
263	268	STRAND		lost
275	275	BINDING	FAD	lost
275	282	HELIX		lost
293	300	STRAND		lost
296	296	BINDING	oxaloacetate	lost
301	303	TURN		lost
310	313	HELIX		lost
317	319	STRAND		lost
327	330	HELIX		lost
332	334	TURN		lost
335	335	MOD_RES	N6-succinyllysine	lost
335	335	MOD_RES	N6-acetyllysine	lost
335	337	HELIX		lost
340	340	BINDING	oxaloacetate	lost
340	340	ACT_SITE		lost
340	352	HELIX		lost
358	361	TURN		lost
363	367	STRAND		lost
373	379	HELIX		lost
383	391	HELIX		lost
395	397	TURN		lost
400	409	STRAND		lost
407	407	BINDING	oxaloacetate	lost
412	415	STRAND		lost
419	425	STRAND		lost
428	437	STRAND		lost
439	441	HELIX		lost
440	440	BINDING	FAD	lost
445	447	STRAND		lost
451	451	BINDING	oxaloacetate	lost
454	454	BINDING	oxaloacetate	lost
456	456	BINDING	FAD	lost
456	474	HELIX		lost
457	457	BINDING	FAD	lost
480	480	MOD_RES	N6-acetyllysine	lost
485	485	MOD_RES	N6-succinyllysine	lost
485	485	MOD_RES	N6-acetyllysine	lost
486	489	TURN		lost
490	500	HELIX		lost
498	498	MOD_RES	N6-acetyllysine	lost
498	498	MOD_RES	N6-succinyllysine	lost
503	507	STRAND		lost
508	522	HELIX		lost
517	517	MOD_RES	N6-acetyllysine	lost
523	525	STRAND		lost
529	545	HELIX		lost
538	538	MOD_RES	N6-acetyllysine	lost
538	538	MOD_RES	N6-succinyllysine	lost
541	541	MOD_RES	N6-acetyllysine	lost
546	548	HELIX		lost
547	547	MOD_RES	N6-succinyllysine	lost
547	547	MOD_RES	N6-acetyllysine	lost
550	550	MOD_RES	N6-acetyllysine	lost
556	558	STRAND		lost
560	584	HELIX		lost
594	597	STRAND		lost
598	598	MOD_RES	N6-acetyllysine	lost
608	608	MOD_RES	N6-acetyllysine	lost
615	615	MOD_RES	N6-succinyllysine	lost
618	620	HELIX		lost
624	624	MOD_RES	N6-acetyllysine	lost
624	631	STRAND		lost
632	635	TURN		lost
636	636	MOD_RES	N6-acetyllysine	lost
636	643	STRAND		lost
647	647	MOD_RES	N6-acetyllysine	lost
651	653	TURN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.624	1
	5.417	1
(flanking)	9.496	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

5

Strand

1

Original gDNA sequence snippet

TTTGTGGAGTATTTTGCCTTGGATCTCCTGATGGAGAATGG

Altered gDNA sequence snippet

TTTGTGGAGTATTTTGCCTTGATCTCCTGATGGAGAATGG

Original cDNA sequence snippet

TTTGTGGAGTATTTTGCCTTGGATCTCCTGATGGAGAATGG

Altered cDNA sequence snippet

TTTGTGGAGTATTTTGCCTTGATCTCCTGATGGAGAATGG

Wildtype AA sequence

MSGVRGLSRL LSARRLALAK AWPTVLQTGT RGFHFTVDGN KRASAKVSDS ISAQYPVVDH
EFDAVVVGAG GAGLRAAFGL SEAGFNTACV TKLFPTRSHT VAAQGGINAA LGNMEEDNWR
WHFYDTVKGS DWLGDQDAIH YMTEQAPAAV VELENYGMPF SRTEDGKIYQ RAFGGQSLKF
GKGGQAHRCC CVADRTGHSL LHTLYGRSLR YDTSYFVEYF ALDLLMENGE CRGVIALCIE
DGSIHRIRAK NTVVATGGYG RTYFSCTSAH TSTGDGTAMI TRAGLPCQDL EFVQFHPTGI
YGAGCLITEG CRGEGGILIN SQGERFMERY APVAKDLASR DVVSRSMTLE IREGRGCGPE
KDHVYLQLHH LPPEQLATRL PGISETAMIF AGVDVTKEPI PVLPTVHYNM GGIPTNYKGQ
VLRHVNGQDQ IVPGLYACGE AACASVHGAN RLGANSLLDL VVFGRACALS IEESCRPGDK
VPPIKPNAGE ESVMNLDKLR FADGSIRTSE LRLSMQKSMQ NHAAVFRVGS VLQEGCGKIS
KLYGDLKHLK TFDRGMVWNT DLVETLELQN LMLCALQTIY GAEARKESRG AHAREDYKVR
IDEYDYSKPI QGQQKKPFEE HWRKHTLSYV DVGTGKVTLE YRPVIDKTLN EADCATVPPA
IRSY*

Mutated AA sequence

MSGVRGLSRL LSARRLALAK AWPTVLQTGT RGFHFTVDGN KRASAKVSDS ISAQYPVVDH
EFDAVVVGAG GAGLRAAFGL SEAGFNTACV TKLFPTRSHT VAAQGGINAA LGNMEEDNWR
WHFYDTVKGS DWLGDQDAIH YMTEQAPAAV VELENYGMPF SRTEDGKIYQ RAFGGQSLKF
GKGGQAHRCC CVADRTGHSL LHTLYGRSLR YDTSYFVEYF ALIS*

Position of stopcodon in wt / mu CDS

1995 / 675

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

665 / 225

Position of stopcodon in wt / mu cDNA

2031 / 711

Position of start ATG in wt / mu cDNA

37 / 37

Last intron/exon boundary

1944

Theoretical NMD boundary in CDS

1857

Length of CDS

1995

Coding sequence (CDS) position

665 / 667

cDNA position

701 / 703

gDNA position

9926 / 9928

Chromosomal position

228228 / 228230

Speed

0.08 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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