mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.190327355664439 (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)

chr7:881668C>TN/A show variant in all transcripts IGV

HGNC symbol

SUN1

Ensembl transcript ID

ENST00000457378

Genbank transcript ID

NM_001171945

UniProt peptide

O94901

alteration type

single base exchange

alteration region

CDS

DNA changes

c.415C>T
cDNA.651C>T
g.26141C>T

AA changes

H139Y Score: 83 explain score(s)

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

139

frameshift

known variant

Reference ID: rs6461378

database	homozygous (T/T)	heterozygous	allele carriers
1000G	724	1221	1945
ExAC	13493	5781	19274

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.242	1
	4.185	1
(flanking)	2.098	0.967

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 gained	26134	0.38	mu: TCTGGCGTCAGCTAC	TGGC\|gtca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

139

mutated

all conserved

139

Ptroglodytes

all identical

ENSPTRG00000018833

118

Mmulatta

all identical

ENSMMUG00000017056

118

Fcatus

not conserved

ENSFCAG00000005256

118

Mmusculus

all identical

ENSMUSG00000036817

118

Ggallus

not conserved

ENSGALG00000003781

122

Trubripes

not conserved

ENSTRUG00000015866

129

INTP

Drerio

not conserved

ENSDARG00000055350

126

Dmelanogaster

no alignment

FBgn0033107

n/a

Celegans

no alignment

F54B11.3

n/a

Xtropicalis

not conserved

ENSXETG00000021642

122

protein features

start (aa)	end (aa)	feature	details
1	138	REGION	LMNA-binding.	might get lost (downstream of altered splice site)
1	315	TOPO_DOM	Nuclear.	lost
138	138	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
174	174	CONFLICT	A -> V (in Ref. 1; BAA34530).	might get lost (downstream of altered splice site)
204	204	CONFLICT	A -> P (in Ref. 5; AAH13613).	might get lost (downstream of altered splice site)
209	302	REGION	SYNE2-binding.	might get lost (downstream of altered splice site)
223	302	REGION	EMD-binding.	might get lost (downstream of altered splice site)
316	335	TRANSMEM	Helical.	might get lost (downstream of altered splice site)
336	812	TOPO_DOM	Perinuclear space.	might get lost (downstream of altered splice site)
393	430	COILED	Potential.	might get lost (downstream of altered splice site)
445	445	CONFLICT	P -> L (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
455	493	COILED	Potential.	might get lost (downstream of altered splice site)
501	523	COILED	Potential.	might get lost (downstream of altered splice site)
520	520	CONFLICT	R -> Q (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
649	811	DOMAIN	SUN.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

837 / 837

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

279 / 279

position of stopcodon in wt / mu cDNA

1073 / 1073

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

237 / 237

chromosome

strand

last intron/exon boundary

778

theoretical NMD boundary in CDS

491

length of CDS

837

coding sequence (CDS) position

415

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

651

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

26141

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

881668

original gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

original cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

wildtype AA sequence

MGRISPGSPG LPRTVWFEVV NMDFSRLHMY SPPQCVPENT GYTYALSSSY SSDALDFETE
HKLDPVFDSP RMSRRSLRLA TTACTLGDGE AVGADSGTSS AVSLKNRAAR TTKQRRSTNK
SAFSINHVSR QVTSSGVSHG GTVSLQDAVT RRPPVLDESW IREQTTVDHF WGLDDDGDLK
GGNKAAIQGN GDVGAAAATA HNGFSCSNCS MLSERKDVLT AHPAAPGPVS RVYSRDRNQK
CKSQSFKTQK KVCFPNLIFP FCKSQCLHYL SWRLKIIP*

mutated AA sequence

MGRISPGSPG LPRTVWFEVV NMDFSRLHMY SPPQCVPENT GYTYALSSSY SSDALDFETE
HKLDPVFDSP RMSRRSLRLA TTACTLGDGE AVGADSGTSS AVSLKNRAAR TTKQRRSTNK
SAFSINHVSR QVTSSGVSYG GTVSLQDAVT RRPPVLDESW IREQTTVDHF WGLDDDGDLK
GGNKAAIQGN GDVGAAAATA HNGFSCSNCS MLSERKDVLT AHPAAPGPVS RVYSRDRNQK
CKSQSFKTQK KVCFPNLIFP FCKSQCLHYL SWRLKIIP*

speed

0.66 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