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: ENST00000380394
Querying Taster for transcript #2: ENST00000380384
Querying Taster for transcript #3: ENST00000315377
MT speed 0.29 s - this script 2.697834 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
ENST00000380384	RPS6	Deleterious	91\|9	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000315377	RPS6	Deleterious	91\|9	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000380394(MANE Select)	RPS6	Deleterious	92\|8	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

9:19376299C>G_2_ENST00000380384

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

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

Analysed issue

Analysis result

Variant

Chr9:19376299C>G (GRCh38)

Gene symbol

RPS6

Gene constraints

LOEUF: 0.19, LOF (oe): 0.04, misssense (oe): 0.76, synonymous (oe): 1.40 ? (gnomAD)

Ensembl transcript ID

ENST00000380384.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.651G>C
g.3938G>C

AA changes

AAE:	Q217H	?
Score:	24

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs757388872
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	49	49

Protein conservation

Species	Match	AA	Alignment
Human		217	L	R	A	S	T	S	K	S	E	S	S	Q	K	*
mutated	not conserved	217	L	R	A	S	T	S	K	S	E	S	S	H	K
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)	7.995	1
	0.968	1
(flanking)	7.995	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

TCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAA

Altered gDNA sequence snippet

TCTAAGTCTGAATCCAGTCACAAATAAGATTTTTTGAGTAA

Original cDNA sequence snippet

TCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAA

Altered cDNA sequence snippet

TCTAAGTCTGAATCCAGTCACAAATAAGATTTTTTGAGTAA

Wildtype AA sequence

MATEVAADAL GEEWKGYVVR ISGGNDKQGF PMKQGVLTHG RVRLLLSKGH SCYRPRRTGE
RKRKSVRGCI VDANLSVLNL VIVKKGEKDI PGLTDTTVPR RLGPKRASRI RKLFNLSKED
DVRQYVVRKP LNKEGKKPRT KAPKIQRLVT PRVLQHKRRR IALKKQRTKK NKEEAAEYAK
LLAKRMKEAK EKRQEQIAKR RRLSSLRAST SKSESSQK*

Mutated AA sequence

MATEVAADAL GEEWKGYVVR ISGGNDKQGF PMKQGVLTHG RVRLLLSKGH SCYRPRRTGE
RKRKSVRGCI VDANLSVLNL VIVKKGEKDI PGLTDTTVPR RLGPKRASRI RKLFNLSKED
DVRQYVVRKP LNKEGKKPRT KAPKIQRLVT PRVLQHKRRR IALKKQRTKK NKEEAAEYAK
LLAKRMKEAK EKRQEQIAKR RRLSSLRAST SKSESSHK*

Position of stopcodon in wt / mu CDS

657 / 657

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

219 / 219

Position of stopcodon in wt / mu cDNA

1332 / 1332

Position of start ATG in wt / mu cDNA

676 / 676

Last intron/exon boundary

1236

Theoretical NMD boundary in CDS

510

Length of CDS

657

Coding sequence (CDS) position

651

cDNA position

1326

gDNA position

3938

Chromosomal position

19376299

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

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MutationT@ster 2025

Variant:

9:19376299C>G_3_ENST00000315377

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

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

Analysed issue

Analysis result

Variant

Chr9:19376299C>G (GRCh38)

Gene symbol

RPS6

Gene constraints

LOEUF: 0.19, LOF (oe): 0.04, misssense (oe): 0.76, synonymous (oe): 1.40 ? (gnomAD)

Ensembl transcript ID

ENST00000315377.4

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.651G>C
g.3938G>C

AA changes

AAE:	Q217H	?
Score:	24

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs757388872
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	49	49

Protein conservation

Species	Match	AA	Alignment
Human		217	L	R	A	S	T	S	K	S	E	S	S	Q	K	*
mutated	not conserved	217	L	R	A	S	T	S	K	S	E	S	S	H	K
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)	7.995	1
	0.968	1
(flanking)	7.995	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

TCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAA

Altered gDNA sequence snippet

TCTAAGTCTGAATCCAGTCACAAATAAGATTTTTTGAGTAA

Original cDNA sequence snippet

TCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTT

Altered cDNA sequence snippet

TCTAAGTCTGAATCCAGTCACAAATAAGATTTTTT

Wildtype AA sequence

MATEVAADAL GEEWKGYVVR ISGGNDKQGF PMKQGVLTHG RVRLLLSKGH SCYRPRRTGE
RKRKSVRGCI VDANLSVLNL VIVKKGEKDI PGLTDTTVPR RLGPKRASRI RKLFNLSKED
DVRQYVVRKP LNKEGKKPRT KAPKIQRLVT PRVLQHKRRR IALKKQRTKK NKEEAAEYAK
LLAKRMKEAK EKRQEQIAKR RRLSSLRAST SKSESSQK*

Mutated AA sequence

MATEVAADAL GEEWKGYVVR ISGGNDKQGF PMKQGVLTHG RVRLLLSKGH SCYRPRRTGE
RKRKSVRGCI VDANLSVLNL VIVKKGEKDI PGLTDTTVPR RLGPKRASRI RKLFNLSKED
DVRQYVVRKP LNKEGKKPRT KAPKIQRLVT PRVLQHKRRR IALKKQRTKK NKEEAAEYAK
LLAKRMKEAK EKRQEQIAKR RRLSSLRAST SKSESSHK*

Position of stopcodon in wt / mu CDS

657 / 657

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

219 / 219

Position of stopcodon in wt / mu cDNA

855 / 855

Position of start ATG in wt / mu cDNA

199 / 199

Last intron/exon boundary

759

Theoretical NMD boundary in CDS

510

Length of CDS

657

Coding sequence (CDS) position

651

cDNA position

849

gDNA position

3938

Chromosomal position

19376299

Speed

0.10 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:

9:19376299C>G_1_ENST00000380394

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 92|8 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:19376299C>G (GRCh38)

Gene symbol

RPS6

Gene constraints

LOEUF: 0.17, LOF (oe): 0.03, misssense (oe): 0.78, synonymous (oe): 1.39 ? (gnomAD)

Ensembl transcript ID

ENST00000380394.9

Genbank transcript ID

NM_001010 (exact from MANE)

UniProt / AlphaMissense peptide

RS6_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.744G>C
g.3938G>C

AA changes

AAE:	Q248H	?
Score:	24

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs757388872
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	49	49

Protein conservation

Species	Match	AA	Alignment
Human		248	L	R	A	S	T	S	K	S	E	S	S	Q	K	*
mutated	not conserved	248					T	S	K	S	E	S	S	H	K
Ptroglodytes	all identical	248					T	S	K	S	E	S	S	Q	K
Mmulatta	all identical	217	L	R	A	S	T	S	K	S	E	S	S	Q	K
Fcatus	all identical	314					T	S	K	S	E	S	S	Q	K
Mmusculus	all identical	248					T	S	K	S	E	S	S	Q	K
Ggallus	all identical	299					T	S	K	S	E	S	S	Q	K
Trubripes	all identical	248					T	S	K	S	E	S	S	Q	K
Drerio	no homologue
Dmelanogaster	all conserved	247				S	K	S	S	V	S	S	D	K	K
Celegans	all conserved	245					S	E	V	K	K	T	S	K	K
Xtropicalis	no alignment	n/a

Protein features

Start (aa)	End (aa)	Feature	Details
1	249	CHAIN		lost
217	249	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.995	1
	0.968	1
(flanking)	7.995	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

TCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAA

Altered gDNA sequence snippet

TCTAAGTCTGAATCCAGTCACAAATAAGATTTTTTGAGTAA

Original cDNA sequence snippet

TCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAA

Altered cDNA sequence snippet

TCTAAGTCTGAATCCAGTCACAAATAAGATTTTTTGAGTAA

Wildtype AA sequence

MKLNISFPAT GCQKLIEVDD ERKLRTFYEK RMATEVAADA LGEEWKGYVV RISGGNDKQG
FPMKQGVLTH GRVRLLLSKG HSCYRPRRTG ERKRKSVRGC IVDANLSVLN LVIVKKGEKD
IPGLTDTTVP RRLGPKRASR IRKLFNLSKE DDVRQYVVRK PLNKEGKKPR TKAPKIQRLV
TPRVLQHKRR RIALKKQRTK KNKEEAAEYA KLLAKRMKEA KEKRQEQIAK RRRLSSLRAS
TSKSESSQK*

Mutated AA sequence

MKLNISFPAT GCQKLIEVDD ERKLRTFYEK RMATEVAADA LGEEWKGYVV RISGGNDKQG
FPMKQGVLTH GRVRLLLSKG HSCYRPRRTG ERKRKSVRGC IVDANLSVLN LVIVKKGEKD
IPGLTDTTVP RRLGPKRASR IRKLFNLSKE DDVRQYVVRK PLNKEGKKPR TKAPKIQRLV
TPRVLQHKRR RIALKKQRTK KNKEEAAEYA KLLAKRMKEA KEKRQEQIAK RRRLSSLRAS
TSKSESSHK*

Position of stopcodon in wt / mu CDS

750 / 750

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

250 / 250

Position of stopcodon in wt / mu cDNA

791 / 791

Position of start ATG in wt / mu cDNA

42 / 42

Last intron/exon boundary

695

Theoretical NMD boundary in CDS

603

Length of CDS

750

Coding sequence (CDS) position

744

cDNA position

785

gDNA position

3938

Chromosomal position

19376299

Speed

0.10 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