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: ENST00000392644
Querying Taster for transcript #2: ENST00000368972
MT speed 0.09 s - this script 2.517731 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000392644(MANE Select)	ARMC2	Deleterious	89\|11	simple_aae		No				Insertion		Insertion of more than 2 AA	Amino acid sequence changed Protein features (might be) affected
ENST00000368972	ARMC2	Deleterious	91\|9	simple_aae		No				Insertion		Insertion of more than 2 AA	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

6:108928130A>AGAAGTAAGTTCCTAC_1_ENST00000392644

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 89|11 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:108928130_108928131insGAAGTAAGTTCCTAC (GRCh38)

Gene symbol

ARMC2

Gene constraints

LOEUF: 0.94, LOF (oe): 0.75, misssense (oe): 0.86, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000392644.9

Genbank transcript ID

NM_032131 (exact from MANE)

UniProt / AlphaMissense peptide

ARMC2_HUMAN | AlphaMissense: transcript, gene

Variant type

Insertion

Gene region

CDS

DNA changes

c.1393_1394insGAAGTAAGTTCCTAC
g.79715_79716insGAAGTAAGTTCCTAC

AA changes

insertion of more than 2 AA

AAE:	-465R	-465S	-465K	-465F	-465L	?
Score:	-	-	-	-	-

Frameshift

No

Length of protein

Insertion of more than 2 AA

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs775696634
gnomAD	homozygous (GAAGTAAGTTCCTAC/GAAGTAAGTTCCTAC)	heterozygous	allele carriers
	0	33	33

Protein conservation

Species	Match	AA	Alignment
Human		465	T	L	R	N	L	V	D	S	S	L	V	R	S	K	F	L	N	I	S	A	L	P	Q	L
mutated	all identical	465	T	L	R	N	L	V	D	S	S	L	VRSKFL	R	S	K	F	L	N	I	S	A	L	P
Ptroglodytes	all identical	464	T	L	R	N	L	V	D	S	S	L	V	R	S	K	F	L	N	I	S	A	L	P	Q
Mmulatta	all identical	530	T	L	R	N	L	V	D	S	P	L	V	R	T	K	F	L	S	I	S	A	L	P	Q
Fcatus	all identical	466	T	L	R	N	L	V	D	S	P	P	A	R	S	K	L	L	S	I	S	A	L	P	Q
Mmusculus	all identical	458	T	L	R	N	L	V	D	S	P	L	T	R	S	K	L	L	N	M	G	A	F	P	H
Ggallus	all identical	452	T	L	R	N	L	A	D	L	P	Q	T	R	C	Q	L	V	C	S	G	A	V	S	E
Trubripes	all identical	242	A	L	R	N	L	A	D	H	P	D	A	R	P	V	F	I	S	C	G	I	F	S	D
Drerio	no homologue
Dmelanogaster	all conserved	416	A	M	R	A	L	A	D	V	S	Q	Q	Q	Q	R	LQ	L	Q	L	QL	A	C	P	H
Celegans	no homologue
Xtropicalis	all identical	443	T	L	R	N	L	A	D	L	S	Q	S	R	V	K	F	L	A	S	N	A	L	P	E

Protein features

Start (aa)	End (aa)	Feature	Details
1	867	CHAIN		lost
462	503	REPEAT	ARM	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.113	0.99
(flanking)	6.697	0.999

?

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

6

Strand

1

Original gDNA sequence snippet

GGTTGATTCATCATTAGTAAGAAGTAAGTTCCTAAACATC

Altered gDNA sequence snippet

GGTTGATTCATCATTAGTAAGAAGTAAGTTCCTACGAAGTAAGTTCCTAAACATC

Original cDNA sequence snippet

GGTTGATTCATCATTAGTAAGAAGTAAGTTCCTAAACATC

Altered cDNA sequence snippet

GGTTGATTCATCATTAGTAAGAAGTAAGTTCCTACGAAGTAAGTTCCTAAACATC

Wildtype AA sequence

MLSPNDKMLG KLDPFYQPSV SKQKTSAEII SEARNALRTV RTQRPFTPQE AQRKLFGPAS
SRTSENRPPS SFSLHASSFE SSDSRPISGT RLSPLELKPK VPASPTREED SCFSFPKPPV
DPAKIRRVSN ARARLFRAAS QRALLPDRSL PPSDSKKTVE SKETVMMGDS MVKINGIYLT
KSNAICHLKS HPLQLTDDGG FSEIKEQEMF KGTTSLPSHL KNGGDQGKRH ARASSCPSSS
DLSRLQTKAV PKADLQEEDA EIEVDEVFWN TRIVPILREL EKEENIETVC AACTQLHHAL
EEGNMLGNKF KGRSILLKTL CKLVDVGSDS LSLKLAKIIL ALKVSRKNLL NVCKLIFKIS
RNEKNDSLIQ NDSILESLLE VLRSEDLQTN MEAFLYCMGS IKFISGNLGF LNEMISKGAV
EILINLIKQI NENIKKCGTF LPNSGHLLVQ VTATLRNLVD SSLVRSKFLN ISALPQLCTA
MEQYKGDKDV CTNIARIFSK LTSYRDCCTA LASYSRCYAL FLNLINKYQK KQDLVVRVVF
ILGNLTAKNN QAREQFSKEK GSIQTLLSLF QTFHQLDLHS QKPVGQRGEQ HRAQRPPSEA
EDVLIKLTRV LANIAIHPGV GPVLAANPGI VGLLLTTLEY KSLDDCEELV INATATINNL
SYYQVKNSII QDKKLYIAEL LLKLLVSNNM DGILEAVRVF GNLSQDHDVC DFIVQNNVHR
FMMALLDAQH QDICFSACGV LLNLTVDKDK RVILKEGGGI KKLVDCLRDL GPTDWQLACL
VCKTLWNFSE NITNASSCFG NEDTNTLLLL LSSFLDEELA LDGSFDPDLK NYHKLHWETE
FKPVAQQLLN RIQRHHTFLE PLPIPSF*

Mutated AA sequence

MLSPNDKMLG KLDPFYQPSV SKQKTSAEII SEARNALRTV RTQRPFTPQE AQRKLFGPAS
SRTSENRPPS SFSLHASSFE SSDSRPISGT RLSPLELKPK VPASPTREED SCFSFPKPPV
DPAKIRRVSN ARARLFRAAS QRALLPDRSL PPSDSKKTVE SKETVMMGDS MVKINGIYLT
KSNAICHLKS HPLQLTDDGG FSEIKEQEMF KGTTSLPSHL KNGGDQGKRH ARASSCPSSS
DLSRLQTKAV PKADLQEEDA EIEVDEVFWN TRIVPILREL EKEENIETVC AACTQLHHAL
EEGNMLGNKF KGRSILLKTL CKLVDVGSDS LSLKLAKIIL ALKVSRKNLL NVCKLIFKIS
RNEKNDSLIQ NDSILESLLE VLRSEDLQTN MEAFLYCMGS IKFISGNLGF LNEMISKGAV
EILINLIKQI NENIKKCGTF LPNSGHLLVQ VTATLRNLVD SSLVRSKFLR SKFLNISALP
QLCTAMEQYK GDKDVCTNIA RIFSKLTSYR DCCTALASYS RCYALFLNLI NKYQKKQDLV
VRVVFILGNL TAKNNQAREQ FSKEKGSIQT LLSLFQTFHQ LDLHSQKPVG QRGEQHRAQR
PPSEAEDVLI KLTRVLANIA IHPGVGPVLA ANPGIVGLLL TTLEYKSLDD CEELVINATA
TINNLSYYQV KNSIIQDKKL YIAELLLKLL VSNNMDGILE AVRVFGNLSQ DHDVCDFIVQ
NNVHRFMMAL LDAQHQDICF SACGVLLNLT VDKDKRVILK EGGGIKKLVD CLRDLGPTDW
QLACLVCKTL WNFSENITNA SSCFGNEDTN TLLLLLSSFL DEELALDGSF DPDLKNYHKL
HWETEFKPVA QQLLNRIQRH HTFLEPLPIP SF*

Position of stopcodon in wt / mu CDS

2604 / 2619

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

868 / 873

Position of stopcodon in wt / mu cDNA

2772 / 2787

Position of start ATG in wt / mu cDNA

169 / 169

Last intron/exon boundary

2614

Theoretical NMD boundary in CDS

2395

Length of CDS

2604

Coding sequence (CDS) position

1393 / 1394

cDNA position

1561 / 1562

gDNA position

79715 / 79716

Chromosomal position

108928130 / 108928131

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:

6:108928130A>AGAAGTAAGTTCCTAC_2_ENST00000368972

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 91|9 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:108928130_108928131insGAAGTAAGTTCCTAC (GRCh38)

Gene symbol

ARMC2

Gene constraints

LOEUF: 0.97, LOF (oe): 0.77, misssense (oe): 0.86, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000368972.7

Genbank transcript ID

NM_001286609 (by similarity)

UniProt / AlphaMissense peptide

ARMC2_HUMAN | AlphaMissense: transcript, gene

Variant type

Insertion

Gene region

CDS

DNA changes

c.898_899insGAAGTAAGTTCCTAC
g.79715_79716insGAAGTAAGTTCCTAC

AA changes

insertion of more than 2 AA

AAE:	-300R	-300S	-300K	-300F	-300L	?
Score:	-	-	-	-	-

Frameshift

No

Length of protein

Insertion of more than 2 AA

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs775696634
gnomAD	homozygous (GAAGTAAGTTCCTAC/GAAGTAAGTTCCTAC)	heterozygous	allele carriers
	0	33	33

Protein conservation

Species	Match	AA	Alignment
Human		300	T	L	R	N	L	V	D	S	S	L	V	R	S	K	F	L	N	I	S	A	L	P	Q	L
mutated	all identical	300	T	L	R	N	L	V	D	S	S	L	V	R	S	K	F	L	R	S	K	F	L	N	I
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	867	CHAIN		lost
262	301	REPEAT	ARM	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.113	0.99
(flanking)	6.697	0.999

?

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

6

Strand

1

Original gDNA sequence snippet

GGTTGATTCATCATTAGTAAGAAGTAAGTTCCTAAACATC

Altered gDNA sequence snippet

GGTTGATTCATCATTAGTAAGAAGTAAGTTCCTACGAAGTAAGTTCCTAAACATC

Original cDNA sequence snippet

GGTTGATTCATCATTAGTAAGAAGTAAGTTCCTAAACATC

Altered cDNA sequence snippet

GGTTGATTCATCATTAGTAAGAAGTAAGTTCCTACGAAGTAAGTTCCTAAACATC

Wildtype AA sequence

MMGDSMVKIN GIYLTKSNAI CHLKSHPLQL TDDGGFSEIK EQEMFKGTTS LPSHLKNGGD
QGKRHARASS CPSSSDLSRL QTKAVPKADL QEEDAEIEVD EVFWNTRIVP ILRELEKEEN
IETVCAACTQ LHHALEEGNM LGNKFKGRSI LLKTLCKLVD VGSDSLSLKL AKIILALKVS
RKNLLNVCKL IFKISRNEKN DSLIQNDSIL ESLLEVLRSE DLQTNMEAFL YCMGSIKFIS
GNLGFLNEMI SKGAVEILIN LIKQINENIK KCGTFLPNSG HLLVQVTATL RNLVDSSLVR
SKFLNISALP QLCTAMEQYK GDKDVCTNIA RIFSKLTSYR DCCTALASYS RCYALFLNLI
NKYQKKQDLV VRVVFILGNL TAKNNQAREQ FSKEKGSIQT LLSLFQTFHQ LDLHSQKPVG
QRGEQHRAQR PPSEAEDVLI KLTRVLANIA IHPGVGPVLA ANPGIVGLLL TTLEYKSLDD
CEELVINATA TINNLSYYQV KNSIIQDKKL YIAELLLKLL VSNNMDGILE AVRVFGNLSQ
DHDVCDFIVQ NNVHRFMMAL LDAQHQDICF SACGVLLNLT VDKDKRVILK EGGGIKKLVD
CLRDLGPTDW QLACLVCKTL WNFSENITNA SSCFGNEDTN TLLLLLSSFL DEELALDGSF
DPDLKNYHKL HWETEFKPVA QQLLNRIQRH HTFLEPLPIP SF*

Mutated AA sequence

MMGDSMVKIN GIYLTKSNAI CHLKSHPLQL TDDGGFSEIK EQEMFKGTTS LPSHLKNGGD
QGKRHARASS CPSSSDLSRL QTKAVPKADL QEEDAEIEVD EVFWNTRIVP ILRELEKEEN
IETVCAACTQ LHHALEEGNM LGNKFKGRSI LLKTLCKLVD VGSDSLSLKL AKIILALKVS
RKNLLNVCKL IFKISRNEKN DSLIQNDSIL ESLLEVLRSE DLQTNMEAFL YCMGSIKFIS
GNLGFLNEMI SKGAVEILIN LIKQINENIK KCGTFLPNSG HLLVQVTATL RNLVDSSLVR
SKFLRSKFLN ISALPQLCTA MEQYKGDKDV CTNIARIFSK LTSYRDCCTA LASYSRCYAL
FLNLINKYQK KQDLVVRVVF ILGNLTAKNN QAREQFSKEK GSIQTLLSLF QTFHQLDLHS
QKPVGQRGEQ HRAQRPPSEA EDVLIKLTRV LANIAIHPGV GPVLAANPGI VGLLLTTLEY
KSLDDCEELV INATATINNL SYYQVKNSII QDKKLYIAEL LLKLLVSNNM DGILEAVRVF
GNLSQDHDVC DFIVQNNVHR FMMALLDAQH QDICFSACGV LLNLTVDKDK RVILKEGGGI
KKLVDCLRDL GPTDWQLACL VCKTLWNFSE NITNASSCFG NEDTNTLLLL LSSFLDEELA
LDGSFDPDLK NYHKLHWETE FKPVAQQLLN RIQRHHTFLE PLPIPSF*

Position of stopcodon in wt / mu CDS

2109 / 2124

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

703 / 708

Position of stopcodon in wt / mu cDNA

2705 / 2720

Position of start ATG in wt / mu cDNA

597 / 597

Last intron/exon boundary

2547

Theoretical NMD boundary in CDS

1900

Length of CDS

2109

Coding sequence (CDS) position

898 / 899

cDNA position

1494 / 1495

gDNA position

79715 / 79716

Chromosomal position

108928130 / 108928131

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