mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999886109 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:28134974C>AN/A show variant in all transcripts IGV

HGNC symbol

METTL15

Ensembl transcript ID

ENST00000303459

Genbank transcript ID

N/A

UniProt peptide

A6NJ78

alteration type

single base exchange

alteration region

CDS

DNA changes

c.93C>A
cDNA.200C>A
g.5180C>A

AA changes

N31K Score: 94 explain score(s)

position(s) of altered AA
if AA alteration in CDS

frameshift

known variant

Reference ID: rs60970073

database	homozygous (A/A)	heterozygous	allele carriers
1000G	982	1061	2043
ExAC	14252	4263	18515

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.717	0.773
	-1.13	0.01
(flanking)	1.563	0.013

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	5182	wt: 0.2678 / mu: 0.3173 (marginal change - not scored)	wt: AAACAGAATACATAC mu: AAAAAGAATACATAC	ACAG\|aata
Donor gained	5176	0.91	mu: CTGGCCAAAAAGAAT	GGCC\|aaaa

distance from splice site

110

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000003461

Mmulatta

no alignment

ENSMMUG00000013616

n/a

Fcatus

no alignment

ENSFCAG00000018942

n/a

Mmusculus

all conserved

ENSMUSG00000057234

Ggallus

no alignment

ENSGALG00000012153

n/a

Trubripes

no alignment

ENSTRUG00000017270

n/a

Drerio

no alignment

ENSDARG00000089236

n/a

Dmelanogaster

no alignment

FBgn0037822

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000004281

n/a

protein features

start (aa)	end (aa)	feature	details
100	102	REGION	S-adenosyl-L-methionine binding (By similarity).	might get lost (downstream of altered splice site)
119	119	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
146	146	BINDING	S-adenosyl-L-methionine; via amide nitrogen (By similarity).	might get lost (downstream of altered splice site)
169	169	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
176	176	BINDING	S-adenosyl-L-methionine (By similarity).	might get lost (downstream of altered splice site)
191	191	CONFLICT	P -> S (in Ref. 4; AAH30997).	might get lost (downstream of altered splice site)
194	194	CONFLICT	M -> V (in Ref. 1; BAC03631).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

822 / 822

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

274 / 274

position of stopcodon in wt / mu cDNA

929 / 929

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

108 / 108

chromosome

strand

last intron/exon boundary

957

theoretical NMD boundary in CDS

799

length of CDS

822

coding sequence (CDS) position

cDNA position
(for ins/del: last normal base / first normal base)

200

gDNA position
(for ins/del: last normal base / first normal base)

5180

chromosomal position
(for ins/del: last normal base / first normal base)

28134974

original gDNA sequence snippet

AATTTAGGTGTCTGGCCAAACAGAATACATACTACAGCAGA

altered gDNA sequence snippet

AATTTAGGTGTCTGGCCAAAAAGAATACATACTACAGCAGA

original cDNA sequence snippet

AATTTAGGTGTCTGGCCAAACAGAATACATACTACAGCAGA

altered cDNA sequence snippet

AATTTAGGTGTCTGGCCAAAAAGAATACATACTACAGCAGA

wildtype AA sequence

MLRYPYFCRM YKECLSCWLE SGIPNLGVWP NRIHTTAEKY REYEAREQTD QTQAQELHRS
QDRDFETMAK LHIPVMVDEV VHCLSPQKGQ IFLDMTFGSG GHTKAILQKE SDIVLYALDR
DPTAYALAEH LSELYPKQIR AMLGQFSQAE ALLMKAGVQP GTFDGVLMDL GCSSMQLDTP
ERGFSLRKDG PLDMRMDGGR YPDMPTAADV VNALDQQALA SILRTYGEEK HAKKIASAIV
QARSIYPITR TQQLASIVAE YSETYFPVAQ TLY*

mutated AA sequence

MLRYPYFCRM YKECLSCWLE SGIPNLGVWP KRIHTTAEKY REYEAREQTD QTQAQELHRS
QDRDFETMAK LHIPVMVDEV VHCLSPQKGQ IFLDMTFGSG GHTKAILQKE SDIVLYALDR
DPTAYALAEH LSELYPKQIR AMLGQFSQAE ALLMKAGVQP GTFDGVLMDL GCSSMQLDTP
ERGFSLRKDG PLDMRMDGGR YPDMPTAADV VNALDQQALA SILRTYGEEK HAKKIASAIV
QARSIYPITR TQQLASIVAE YSETYFPVAQ TLY*

speed

1.36 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project