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: ENST00000613315
Querying Taster for transcript #2: ENST00000437652
Querying Taster for transcript #3: ENST00000707139
Querying Taster for transcript #4: ENST00000428931
Querying Taster for transcript #5: ENST00000271877
Querying Taster for transcript #6: ENST00000361546
Querying Taster for transcript #7: ENST00000343815
MT speed 0.45 s - this script 2.924837 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000428931(MANE Select)	UBAP2L	Deleterious	51\|49	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000437652	UBAP2L	Deleterious	80\|20	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000271877	UBAP2L	Deleterious	85\|15	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000361546	UBAP2L	Deleterious	85\|15	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000613315	UBAP2L	Deleterious	91\|9	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000343815	UBAP2L	Deleterious	91\|9	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000707139	UBAP2L	Deleterious	93\|7	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

1:154237115T>G_4_ENST00000428931

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 51|49 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:154237115T>G (GRCh38)

Gene symbol

UBAP2L

Gene constraints

LOEUF: 0.16, LOF (oe): 0.10, misssense (oe): 0.69, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000428931.6

Genbank transcript ID

NM_014847 (exact from MANE), NM_001375618 (by similarity), NM_001375621 (by similarity), NM_001375617 (by similarity), NM_001375620 (by similarity)

UniProt / AlphaMissense peptide

UBP2L_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.682T>G
g.16937T>G

AA changes

AAE:	F228V	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		228	S	S	G	N	T	W	N	N	T	G	H	F	E	P	D	D	G	T	S	A	W	R	T	A
mutated	not conserved	228	S	S	G	N	T	W	N	N	T	G	H	V	E	P	D	D	G	T	S	A	W	R	T
Ptroglodytes	all identical	228	S	S	G	N	T	W	N	N	T	G	H	F	E	P	D	D	G	TRLDFIG
Mmulatta	all identical	228	S	S	G	N	T	W	N	N	T	G	H	F	E	P	D	D	G	T	S	A	W	R	T
Fcatus	all identical	228	N	S	G	N	T	W	N	N	T	G	H	F	E	P	D	D	G	T	S	A	W	R	T
Mmusculus	all identical	228	S	S	G	N	T	W	N	N	T	G	H	F	E	P	D	D	G	TRLDFIG
Ggallus	all identical	228	S	N	T	N	T	W	N	N	T	G	S	F	E	P	D	D	G	TRLDFIG
Trubripes	not conserved	226	-	-	G	S	T	W	N	N	T	G	S	A	E	S	E	E	G	TRL
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	226	S	S	-	-	T	W	N	S	T	A	N	F	E	P	D	D	G	TRHDYIG

Protein features

Start (aa)	End (aa)	Feature	Details
1	1087	CHAIN		lost
92	234	REGION		lost
210	230	COMPBIAS	Polar residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.527	1
	3.899	1
(flanking)	3.882	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

22

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

1

Original gDNA sequence snippet

CGTGGAACAACACTGGCCACTTTGAACCAGATGATGGGACG

Altered gDNA sequence snippet

CGTGGAACAACACTGGCCACGTTGAACCAGATGATGGGACG

Original cDNA sequence snippet

CGTGGAACAACACTGGCCACTTTGAACCAGATGATGGGACG

Altered cDNA sequence snippet

CGTGGAACAACACTGGCCACGTTGAACCAGATGATGGGACG

Wildtype AA sequence

MMTSVGTNRA RGNWEQPQNQ NQTQHKQRPQ ATAEQIRLAQ MISDHNDADF EEKVKQLIDI
TGKNQDECVI ALHDCNGDVN RAINVLLEGN PDTHSWEMVG KKKGVSGQKD GGQTESNEEG
KENRDRDRDY SRRRGGPPRR GRGASRGREF RGQENGLDGT KSGGPSGRGT ERGRRGRGRG
RGGSGRRGGR FSAQGMGTFN PADYAEPANT DDNYGNSSGN TWNNTGHFEP DDGTSAWRTA
TEEWGTEDWN EDLSETKIFT ASNVSSVPLP AENVTITAGQ RIDLAVLLGK TPSTMENDSS
NLDPSQAPSL AQPLVFSNSK QTAISQPASG NTFSHHSMVS MLGKGFGDVG EAKGGSTTGS
QFLEQFKTAQ ALAQLAAQHS QSGSTTTSSW DMGSTTQSPS LVQYDLKNPS DSAVHSPFTK
RQAFTPSSTM MEVFLQEKSP AVATSTAAPP PPSSPLPSKS TSAPQMSPGS SDNQSSSPQP
AQQKLKQQKK KASLTSKIPA LAVEMPGSAD ISGLNLQFGA LQFGSEPVLS DYESTPTTSA
SSSQAPSSLY TSTASESSST ISSNQSQESG YQSGPIQSTT YTSQNNAQGP LYEQRSTQTR
RYPSSISSSP QKDLTQAKNG FSSVQATQLQ TTQSVEGATG SAVKSDSPST SSIPPLNETV
SAASLLTTTN QHSSSLGGLS HSEEIPNTTT TQHSSTLSTQ QNTLSSSTSS GRTSTSTLLH
TSVESEANLH SSSSTFSTTS STVSAPPPVV SVSSSLNSGS SLGLSLGSNS TVTASTRSSV
ATTSGKAPPN LPPGVPPLLP NPYIMAPGLL HAYPPQVYGY DDLQMLQTRF PLDYYSIPFP
TPTTPLTGRD GSLASNPYSG DLTKFGRGDA SSPAPATTLA QPQQNQTQTH HTTQQTFLNP
ALPPGYSYTS LPYYTGVPGL PSTFQYGPAV FPVAPTSSKQ HGVNVSVNAS ATPFQQPSGY
GSHGYNTGVS VTSSNTGVPD ISGSVYSKTQ QSFEKQGFHS GTPAASFNLP SALGSGGPIN
PATAAAYPPA PFMHILTPHQ QPHSQILHHH LQQDGQTGSG QRSQTSSIPQ KPQTNKSAYN
SYSWGAN*

Mutated AA sequence

MMTSVGTNRA RGNWEQPQNQ NQTQHKQRPQ ATAEQIRLAQ MISDHNDADF EEKVKQLIDI
TGKNQDECVI ALHDCNGDVN RAINVLLEGN PDTHSWEMVG KKKGVSGQKD GGQTESNEEG
KENRDRDRDY SRRRGGPPRR GRGASRGREF RGQENGLDGT KSGGPSGRGT ERGRRGRGRG
RGGSGRRGGR FSAQGMGTFN PADYAEPANT DDNYGNSSGN TWNNTGHVEP DDGTSAWRTA
TEEWGTEDWN EDLSETKIFT ASNVSSVPLP AENVTITAGQ RIDLAVLLGK TPSTMENDSS
NLDPSQAPSL AQPLVFSNSK QTAISQPASG NTFSHHSMVS MLGKGFGDVG EAKGGSTTGS
QFLEQFKTAQ ALAQLAAQHS QSGSTTTSSW DMGSTTQSPS LVQYDLKNPS DSAVHSPFTK
RQAFTPSSTM MEVFLQEKSP AVATSTAAPP PPSSPLPSKS TSAPQMSPGS SDNQSSSPQP
AQQKLKQQKK KASLTSKIPA LAVEMPGSAD ISGLNLQFGA LQFGSEPVLS DYESTPTTSA
SSSQAPSSLY TSTASESSST ISSNQSQESG YQSGPIQSTT YTSQNNAQGP LYEQRSTQTR
RYPSSISSSP QKDLTQAKNG FSSVQATQLQ TTQSVEGATG SAVKSDSPST SSIPPLNETV
SAASLLTTTN QHSSSLGGLS HSEEIPNTTT TQHSSTLSTQ QNTLSSSTSS GRTSTSTLLH
TSVESEANLH SSSSTFSTTS STVSAPPPVV SVSSSLNSGS SLGLSLGSNS TVTASTRSSV
ATTSGKAPPN LPPGVPPLLP NPYIMAPGLL HAYPPQVYGY DDLQMLQTRF PLDYYSIPFP
TPTTPLTGRD GSLASNPYSG DLTKFGRGDA SSPAPATTLA QPQQNQTQTH HTTQQTFLNP
ALPPGYSYTS LPYYTGVPGL PSTFQYGPAV FPVAPTSSKQ HGVNVSVNAS ATPFQQPSGY
GSHGYNTGVS VTSSNTGVPD ISGSVYSKTQ QSFEKQGFHS GTPAASFNLP SALGSGGPIN
PATAAAYPPA PFMHILTPHQ QPHSQILHHH LQQDGQTGSG QRSQTSSIPQ KPQTNKSAYN
SYSWGAN*

Position of stopcodon in wt / mu CDS

3264 / 3264

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

1088 / 1088

Position of stopcodon in wt / mu cDNA

3325 / 3325

Position of start ATG in wt / mu cDNA

62 / 62

Last intron/exon boundary

3229

Theoretical NMD boundary in CDS

3117

Length of CDS

3264

Coding sequence (CDS) position

682

cDNA position

743

gDNA position

16937

Chromosomal position

154237115

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:

1:154237115T>G_2_ENST00000437652

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 80|20 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:154237115T>G (GRCh38)

Gene symbol

UBAP2L

Gene constraints

LOEUF: 0.22, LOF (oe): 0.09, misssense (oe): 0.51, synonymous (oe): 0.72 ? (gnomAD)

Ensembl transcript ID

ENST00000437652.6

Genbank transcript ID

NM_001375616 (by similarity), NM_001375612 (by similarity), NM_001375614 (by similarity), NM_001375615 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.661T>G
g.16937T>G

AA changes

AAE:	F221V	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		221	S	S	G	N	T	W	N	N	T	G	H	F	E	P	D	D	G	T	S	A	W	R	T	A
mutated	not conserved	221	S	S	G	N	T	W	N	N	T	G	H	V	E	P	D	D	G	T	S	A	W	R	T
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)	2.527	1
	3.899	1
(flanking)	3.882	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

22

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

1

Original gDNA sequence snippet

CGTGGAACAACACTGGCCACTTTGAACCAGATGATGGGACG

Altered gDNA sequence snippet

CGTGGAACAACACTGGCCACGTTGAACCAGATGATGGGACG

Original cDNA sequence snippet

CGTGGAACAACACTGGCCACTTTGAACCAGATGATGGGACG

Altered cDNA sequence snippet

CGTGGAACAACACTGGCCACGTTGAACCAGATGATGGGACG

Wildtype AA sequence

MMTSVGTNRA RGNWEQPQNQ NQTQHKQRPQ ATAEQIRLAQ MISDHNDADF EEKVKQLIDI
TGKNQDECVI ALHDCNGDVN RAINVLLEGN PDTHSWEMVG KKKGVSGQKD GGQTESNEEG
KENRDRDRDY SRRRGGPPRR GRVRGQENGL DGTKSGGPSG RGTERGRRGR GRGRGGSGRR
GGRFSAQGMG TFNPADYAEP ANTDDNYGNS SGNTWNNTGH FEPDDGTSAW RTATEEWGTE
DWNEDLSETK IFTASNVSSV PLPAENVTIT AGQRIDLAVL LGKTPSTMEN DSSNLDPSQA
PSLAQPLVFS NSKQTAISQP ASGNTFSHHS MVSMLGKGFG DVGEAKGGST TGSQFLEQFK
TAQALAQLAA QHSQSGSTTT SSWDMGSTTQ SPSLVQYDLK NPSDSAVHSP FTKRQAFTPS
STMMEVFLQE KSPAVATSTA APPPPSSPLP SKSTSAPQMS PGSSDNQSSS PQPAQQKLKQ
QKKKASLTSK IPALAVEMPG SADISGLNLQ FGALQFGSEP VLSDYESTPT TSASSSQAPS
SLYTSTASES SSTISSNQSQ ESGYQSGPIQ STTYTSQNNA QGPLYEQRST QTRRYPSSIS
SSPQKDLTQA KNGFSSVQAT QLQTTQSVEG ATGSAVKSDS PSTSSIPPLN ETVSAASLLT
TTNQHSSSLG GLSHSEEIPN TTTTQHSSTL STQQNTLSSS TSSGRTSTST LLHTSVESEA
NLHSSSSTFS TTSSTVSAPP PVVSVSSSLN SGSSLGLSLG SNSTVTASTR SSVATTSGKA
PPNLPPGVPP LLPNPYIMAP GLLHAYPPQV YGYDDLQMLQ TRFPLDYYSI PFPTPTTPLT
GRDGSLASNP YSGDLTKFGR GDASSPAPAT TLAQPQQNQT QTHHTTQQTF LNPALPPGYS
YTSLPYYTGV PGLPSTFQYG PAVFPVAPTS SKQHGVNVSV NASATPFQQP SGYGSHGYNT
GVSVTSSNTG VPDISGSVYS KTQQSFEKQG FHSGTPAASF NLPSALGSGG PINPATAAAY
PPAPFMHILT PHQQPHSQIL HHHLQQDGQL PYLQMILCCQ RQQEEQTGSG QRSQTSSIPQ
KPQTNKSAYN SYSWGAN*

Mutated AA sequence

MMTSVGTNRA RGNWEQPQNQ NQTQHKQRPQ ATAEQIRLAQ MISDHNDADF EEKVKQLIDI
TGKNQDECVI ALHDCNGDVN RAINVLLEGN PDTHSWEMVG KKKGVSGQKD GGQTESNEEG
KENRDRDRDY SRRRGGPPRR GRVRGQENGL DGTKSGGPSG RGTERGRRGR GRGRGGSGRR
GGRFSAQGMG TFNPADYAEP ANTDDNYGNS SGNTWNNTGH VEPDDGTSAW RTATEEWGTE
DWNEDLSETK IFTASNVSSV PLPAENVTIT AGQRIDLAVL LGKTPSTMEN DSSNLDPSQA
PSLAQPLVFS NSKQTAISQP ASGNTFSHHS MVSMLGKGFG DVGEAKGGST TGSQFLEQFK
TAQALAQLAA QHSQSGSTTT SSWDMGSTTQ SPSLVQYDLK NPSDSAVHSP FTKRQAFTPS
STMMEVFLQE KSPAVATSTA APPPPSSPLP SKSTSAPQMS PGSSDNQSSS PQPAQQKLKQ
QKKKASLTSK IPALAVEMPG SADISGLNLQ FGALQFGSEP VLSDYESTPT TSASSSQAPS
SLYTSTASES SSTISSNQSQ ESGYQSGPIQ STTYTSQNNA QGPLYEQRST QTRRYPSSIS
SSPQKDLTQA KNGFSSVQAT QLQTTQSVEG ATGSAVKSDS PSTSSIPPLN ETVSAASLLT
TTNQHSSSLG GLSHSEEIPN TTTTQHSSTL STQQNTLSSS TSSGRTSTST LLHTSVESEA
NLHSSSSTFS TTSSTVSAPP PVVSVSSSLN SGSSLGLSLG SNSTVTASTR SSVATTSGKA
PPNLPPGVPP LLPNPYIMAP GLLHAYPPQV YGYDDLQMLQ TRFPLDYYSI PFPTPTTPLT
GRDGSLASNP YSGDLTKFGR GDASSPAPAT TLAQPQQNQT QTHHTTQQTF LNPALPPGYS
YTSLPYYTGV PGLPSTFQYG PAVFPVAPTS SKQHGVNVSV NASATPFQQP SGYGSHGYNT
GVSVTSSNTG VPDISGSVYS KTQQSFEKQG FHSGTPAASF NLPSALGSGG PINPATAAAY
PPAPFMHILT PHQQPHSQIL HHHLQQDGQL PYLQMILCCQ RQQEEQTGSG QRSQTSSIPQ
KPQTNKSAYN SYSWGAN*

Position of stopcodon in wt / mu CDS

3294 / 3294

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

1098 / 1098

Position of stopcodon in wt / mu cDNA

3425 / 3425

Position of start ATG in wt / mu cDNA

132 / 132

Last intron/exon boundary

3329

Theoretical NMD boundary in CDS

3147

Length of CDS

3294

Coding sequence (CDS) position

661

cDNA position

792

gDNA position

16937

Chromosomal position

154237115

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:

1:154237115T>G_5_ENST00000271877

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 85|15 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:154237115T>G (GRCh38)

Gene symbol

UBAP2L

Gene constraints

LOEUF: 0.20, LOF (oe): 0.13, misssense (oe): 0.69, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000271877.11

Genbank transcript ID

NM_001330730 (by similarity), NM_001287816 (by similarity), NM_001375625 (by similarity), NM_001375623 (by similarity), NM_001375627 (by similarity), NM_001375624 (by similarity), NM_001375628 (by similarity), NM_001375626 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.715T>G
g.16937T>G

AA changes

AAE:	F239V	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		239	S	S	G	N	T	W	N	N	T	G	H	F	E	P	D	D	G	T	S	A	W	R	T	A
mutated	not conserved	239	S	S	G	N	T	W	N	N	T	G	H	V	E	P	D	D	G	T	S	A	W	R	T
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)	2.527	1
	3.899	1
(flanking)	3.882	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

22

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

1

Original gDNA sequence snippet

CGTGGAACAACACTGGCCACTTTGAACCAGATGATGGGACG

Altered gDNA sequence snippet

CGTGGAACAACACTGGCCACGTTGAACCAGATGATGGGACG

Original cDNA sequence snippet

CGTGGAACAACACTGGCCACTTTGAACCAGATGATGGGACG

Altered cDNA sequence snippet

CGTGGAACAACACTGGCCACGTTGAACCAGATGATGGGACG

Wildtype AA sequence

MMTSVGTNRA RGNWEQPQNQ NQTQHKQRPQ ATAEQIRLAQ MISDHNDADF EEKVKQLIDI
TGKNQDECVI ALHDCNGDVN RAINVLLEGN PDTHSWEMVG KKKGVSGQKD GGQTESNEEG
KENRDRDRDY SRRRGGPPRR GRGASRGREC MHGALSKPAV VRGQENGLDG TKSGGPSGRG
TERGRRGRGR GRGGSGRRGG RFSAQGMGTF NPADYAEPAN TDDNYGNSSG NTWNNTGHFE
PDDGTSAWRT ATEEWGTEDW NEDLSETKIF TASNVSSVPL PAENVTITAG QRIDLAVLLG
KTPSTMENDS SNLDPSQAPS LAQPLVFSNS KQTAISQPAS GNTFSHHSMV SMLGKGFGDV
GEAKGGSTTG SQFLEQFKTA QALAQLAAQH SQSGSTTTSS WDMGSTTQSP SLVQYDLKNP
SDSAVHSPFT KRQAFTPSST MMEVFLQEKS PAVATSTAAP PPPSSPLPSK STSAPQMSPG
SSDNQSSSPQ PAQQKLKQQK KKASLTSKIP ALAVEMPGSA DISGLNLQFG ALQFGSEPVL
SDYESTPTTS ASSSQAPSSL YTSTASESSS TISSNQSQES GYQSGPIQST TYTSQNNAQG
PLYEQRSTQT RRYPSSISSS PQKDLTQAKN GFSSVQATQL QTTQSVEGAT GSAVKSDSPS
TSSIPPLNET VSAASLLTTT NQHSSSLGGL SHSEEIPNTT TTQHSSTLST QQNTLSSSTS
SGRTSTSTLL HTSVESEANL HSSSSTFSTT SSTVSAPPPV VSVSSSLNSG SSLGLSLGSN
STVTASTRSS VATTSGKAPP NLPPGVPPLL PNPYIMAPGL LHAYPPQVYG YDDLQMLQTR
FPLDYYSIPF PTPTTPLTGR DGSLASNPYS GDLTKFGRGD ASSPAPATTL AQPQQNQTQT
HHTTQQTFLN PALPPGYSYT SLPYYTGVPG LPSTFQYGPA VFPVAPTSSK QHGVNVSVNA
SATPFQQPSG YGSHGYNTGV SVTSSNTGVP DISGSVYSKT QQSFEKQGFH SGTPAASFNL
PSALGSGGPI NPATAAAYPP APFMHILTPH QQPHSQILHH HLQQDGQDIL NFVDDQLGE*

Mutated AA sequence

MMTSVGTNRA RGNWEQPQNQ NQTQHKQRPQ ATAEQIRLAQ MISDHNDADF EEKVKQLIDI
TGKNQDECVI ALHDCNGDVN RAINVLLEGN PDTHSWEMVG KKKGVSGQKD GGQTESNEEG
KENRDRDRDY SRRRGGPPRR GRGASRGREC MHGALSKPAV VRGQENGLDG TKSGGPSGRG
TERGRRGRGR GRGGSGRRGG RFSAQGMGTF NPADYAEPAN TDDNYGNSSG NTWNNTGHVE
PDDGTSAWRT ATEEWGTEDW NEDLSETKIF TASNVSSVPL PAENVTITAG QRIDLAVLLG
KTPSTMENDS SNLDPSQAPS LAQPLVFSNS KQTAISQPAS GNTFSHHSMV SMLGKGFGDV
GEAKGGSTTG SQFLEQFKTA QALAQLAAQH SQSGSTTTSS WDMGSTTQSP SLVQYDLKNP
SDSAVHSPFT KRQAFTPSST MMEVFLQEKS PAVATSTAAP PPPSSPLPSK STSAPQMSPG
SSDNQSSSPQ PAQQKLKQQK KKASLTSKIP ALAVEMPGSA DISGLNLQFG ALQFGSEPVL
SDYESTPTTS ASSSQAPSSL YTSTASESSS TISSNQSQES GYQSGPIQST TYTSQNNAQG
PLYEQRSTQT RRYPSSISSS PQKDLTQAKN GFSSVQATQL QTTQSVEGAT GSAVKSDSPS
TSSIPPLNET VSAASLLTTT NQHSSSLGGL SHSEEIPNTT TTQHSSTLST QQNTLSSSTS
SGRTSTSTLL HTSVESEANL HSSSSTFSTT SSTVSAPPPV VSVSSSLNSG SSLGLSLGSN
STVTASTRSS VATTSGKAPP NLPPGVPPLL PNPYIMAPGL LHAYPPQVYG YDDLQMLQTR
FPLDYYSIPF PTPTTPLTGR DGSLASNPYS GDLTKFGRGD ASSPAPATTL AQPQQNQTQT
HHTTQQTFLN PALPPGYSYT SLPYYTGVPG LPSTFQYGPA VFPVAPTSSK QHGVNVSVNA
SATPFQQPSG YGSHGYNTGV SVTSSNTGVP DISGSVYSKT QQSFEKQGFH SGTPAASFNL
PSALGSGGPI NPATAAAYPP APFMHILTPH QQPHSQILHH HLQQDGQDIL NFVDDQLGE*

Position of stopcodon in wt / mu CDS

3240 / 3240

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

1080 / 1080

Position of stopcodon in wt / mu cDNA

3407 / 3407

Position of start ATG in wt / mu cDNA

168 / 168

Last intron/exon boundary

3368

Theoretical NMD boundary in CDS

3150

Length of CDS

3240

Coding sequence (CDS) position

715

cDNA position

882

gDNA position

16937

Chromosomal position

154237115

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:

1:154237115T>G_6_ENST00000361546

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 85|15 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:154237115T>G (GRCh38)

Gene symbol

UBAP2L

Gene constraints

LOEUF: 0.16, LOF (oe): 0.10, misssense (oe): 0.69, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000361546.6

Genbank transcript ID

NM_001375619 (by similarity), NM_001375622 (by similarity)

UniProt / AlphaMissense peptide

UBP2L_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.682T>G
g.16937T>G

AA changes

AAE:	F228V	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		228	S	S	G	N	T	W	N	N	T	G	H	F	E	P	D	D	G	T	S	A	W	R	T	A
mutated	not conserved	228	S	S	G	N	T	W	N	N	T	G	H	V	E	P	D	D	G	T	S	A	W	R	T
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	1087	CHAIN		lost
92	234	REGION		lost
210	230	COMPBIAS	Polar residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.527	1
	3.899	1
(flanking)	3.882	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

22

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

1

Original gDNA sequence snippet

CGTGGAACAACACTGGCCACTTTGAACCAGATGATGGGACG

Altered gDNA sequence snippet

CGTGGAACAACACTGGCCACGTTGAACCAGATGATGGGACG

Original cDNA sequence snippet

CGTGGAACAACACTGGCCACTTTGAACCAGATGATGGGACG

Altered cDNA sequence snippet

CGTGGAACAACACTGGCCACGTTGAACCAGATGATGGGACG

Wildtype AA sequence

MMTSVGTNRA RGNWEQPQNQ NQTQHKQRPQ ATAEQIRLAQ MISDHNDADF EEKVKQLIDI
TGKNQDECVI ALHDCNGDVN RAINVLLEGN PDTHSWEMVG KKKGVSGQKD GGQTESNEEG
KENRDRDRDY SRRRGGPPRR GRGASRGREF RGQENGLDGT KSGGPSGRGT ERGRRGRGRG
RGGSGRRGGR FSAQGMGTFN PADYAEPANT DDNYGNSSGN TWNNTGHFEP DDGTSAWRTA
TEEWGTEDWN EDLSETKIFT ASNVSSVPLP AENVTITAGQ RIDLAVLLGK TPSTMENDSS
NLDPSQAPSL AQPLVFSNSK QTAISQPASG NTFSHHSMVS MLGKGFGDVG EAKGGSTTGS
QFLEQFKTAQ ALAQLAAQHS QSGSTTTSSW DMGSTTQSPS LVQYDLKNPS DSAVHSPFTK
RQAFTPSSTM MEVFLQEKSP AVATSTAAPP PPSSPLPSKS TSAPQMSPGS SDNQSSSPQP
AQQKLKQQKK KASLTSKIPA LAVEMPGSAD ISGLNLQFGA LQFGSEPVLS DYESTPTTSA
SSSQAPSSLY TSTASESSST ISSNQSQESG YQSGPIQSTT YTSQNNAQGP LYEQRSTQTR
RYPSSISSSP QKDLTQAKNG FSSVQATQLQ TTQSVEGATG SAVKSDSPST SSIPPLNETV
SAASLLTTTN QHSSSLGGLS HSEEIPNTTT TQHSSTLSTQ QNTLSSSTSS GRTSTSTLLH
TSVESEANLH SSSSTFSTTS STVSAPPPVV SVSSSLNSGS SLGLSLGSNS TVTASTRSSV
ATTSGKAPPN LPPGVPPLLP NPYIMAPGLL HAYPPQVYGY DDLQMLQTRF PLDYYSIPFP
TPTTPLTGRD GSLASNPYSG DLTKFGRGDA SSPAPATTLA QPQQNQTQTH HTTQQTFLNP
ALPPGYSYTS LPYYTGVPGL PSTFQYGPAV FPVAPTSSKQ HGVNVSVNAS ATPFQQPSGY
GSHGYNTGVS VTSSNTGVPD ISGSVYSKTQ QSFEKQGFHS GTPAASFNLP SALGSGGPIN
PATAAAYPPA PFMHILTPHQ QPHSQILHHH LQQDGQTGSG QRSQTSSIPQ KPQTNKSAYN
SYSWGAN*

Mutated AA sequence

MMTSVGTNRA RGNWEQPQNQ NQTQHKQRPQ ATAEQIRLAQ MISDHNDADF EEKVKQLIDI
TGKNQDECVI ALHDCNGDVN RAINVLLEGN PDTHSWEMVG KKKGVSGQKD GGQTESNEEG
KENRDRDRDY SRRRGGPPRR GRGASRGREF RGQENGLDGT KSGGPSGRGT ERGRRGRGRG
RGGSGRRGGR FSAQGMGTFN PADYAEPANT DDNYGNSSGN TWNNTGHVEP DDGTSAWRTA
TEEWGTEDWN EDLSETKIFT ASNVSSVPLP AENVTITAGQ RIDLAVLLGK TPSTMENDSS
NLDPSQAPSL AQPLVFSNSK QTAISQPASG NTFSHHSMVS MLGKGFGDVG EAKGGSTTGS
QFLEQFKTAQ ALAQLAAQHS QSGSTTTSSW DMGSTTQSPS LVQYDLKNPS DSAVHSPFTK
RQAFTPSSTM MEVFLQEKSP AVATSTAAPP PPSSPLPSKS TSAPQMSPGS SDNQSSSPQP
AQQKLKQQKK KASLTSKIPA LAVEMPGSAD ISGLNLQFGA LQFGSEPVLS DYESTPTTSA
SSSQAPSSLY TSTASESSST ISSNQSQESG YQSGPIQSTT YTSQNNAQGP LYEQRSTQTR
RYPSSISSSP QKDLTQAKNG FSSVQATQLQ TTQSVEGATG SAVKSDSPST SSIPPLNETV
SAASLLTTTN QHSSSLGGLS HSEEIPNTTT TQHSSTLSTQ QNTLSSSTSS GRTSTSTLLH
TSVESEANLH SSSSTFSTTS STVSAPPPVV SVSSSLNSGS SLGLSLGSNS TVTASTRSSV
ATTSGKAPPN LPPGVPPLLP NPYIMAPGLL HAYPPQVYGY DDLQMLQTRF PLDYYSIPFP
TPTTPLTGRD GSLASNPYSG DLTKFGRGDA SSPAPATTLA QPQQNQTQTH HTTQQTFLNP
ALPPGYSYTS LPYYTGVPGL PSTFQYGPAV FPVAPTSSKQ HGVNVSVNAS ATPFQQPSGY
GSHGYNTGVS VTSSNTGVPD ISGSVYSKTQ QSFEKQGFHS GTPAASFNLP SALGSGGPIN
PATAAAYPPA PFMHILTPHQ QPHSQILHHH LQQDGQTGSG QRSQTSSIPQ KPQTNKSAYN
SYSWGAN*

Position of stopcodon in wt / mu CDS

3264 / 3264

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

1088 / 1088

Position of stopcodon in wt / mu cDNA

3306 / 3306

Position of start ATG in wt / mu cDNA

43 / 43

Last intron/exon boundary

3210

Theoretical NMD boundary in CDS

3117

Length of CDS

3264

Coding sequence (CDS) position

682

cDNA position

724

gDNA position

16937

Chromosomal position

154237115

Speed

0.07 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:

1:154237115T>G_1_ENST00000613315

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

Chr1:154237115T>G (GRCh38)

Gene symbol

UBAP2L

Gene constraints

LOEUF: 0.14, LOF (oe): 0.08, misssense (oe): 0.69, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000613315.4

Genbank transcript ID

NM_001287815 (by similarity)

UniProt / AlphaMissense peptide

UBP2L_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.661T>G
g.16937T>G

AA changes

AAE:	F221V	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		221	S	S	G	N	T	W	N	N	T	G	H	F	E	P	D	D	G	T	S	A	W	R	T	A
mutated	not conserved	221	S	S	G	N	T	W	N	N	T	G	H	V	E	P	D	D	G	T	S	A	W	R	T
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	1087	CHAIN		lost
92	234	REGION		lost
210	230	COMPBIAS	Polar residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.527	1
	3.899	1
(flanking)	3.882	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

22

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

1

Original gDNA sequence snippet

CGTGGAACAACACTGGCCACTTTGAACCAGATGATGGGACG

Altered gDNA sequence snippet

CGTGGAACAACACTGGCCACGTTGAACCAGATGATGGGACG

Original cDNA sequence snippet

CGTGGAACAACACTGGCCACTTTGAACCAGATGATGGGACG

Altered cDNA sequence snippet

CGTGGAACAACACTGGCCACGTTGAACCAGATGATGGGACG

Wildtype AA sequence

MMTSVGTNRA RGNWEQPQNQ NQTQHKQRPQ ATAEQIRLAQ MISDHNDADF EEKVKQLIDI
TGKNQDECVI ALHDCNGDVN RAINVLLEGN PDTHSWEMVG KKKGVSGQKD GGQTESNEEG
KENRDRDRDY SRRRGGPPRR GRVRGQENGL DGTKSGGPSG RGTERGRRGR GRGRGGSGRR
GGRFSAQGMG TFNPADYAEP ANTDDNYGNS SGNTWNNTGH FEPDDGTSAW RTATEEWGTE
DWNEDLSETK IFTASNVSSV PLPAENVTIT AGQRIDLAVL LGKTPSTMEN DSSNLDPSQA
PSLAQPLVFS NSKQTAISQP ASGNTFSHHS MVSMLGKGFG DVGEAKGGST TGSQFLEQFK
TAQALAQLAA QHSQSGSTTT SSWDMGSTTQ SPSLVQYDLK NPSDSAVHSP FTKRQAFTPS
STMMEVFLQE KSPAVATSTA APPPPSSPLP SKSTSAPQMS PGSSDNQSSS PQPAQQKLKQ
QKKKASLTSK IPALAVEMPG SADISGLNLQ FGALQFGSEP VLSDYESTPT TSASSSQAPS
SLYTSTASES SSTISSNQSQ ESGYQSGPIQ STTYTSQNNA QGPLYEQRST QTRRYPSSIS
SSPQKDLTQA KNGFSSVQAT QLQTTQSVEG ATGSAVKSDS PSTSSIPPLN ETVSAASLLT
TTNQHSSSLG GLSHSEEIPN TTTTQHSSTL STQQNTLSSS TSSGRTSTST LLHTSVESEA
NLHSSSSTFS TTSSTVSAPP PVVSVSSSLN SGSSLGLSLG SNSTVTASTR SSVATTSGKA
PPNLPPGVPP LLPNPYIMAP GLLHAYPPQV YGYDDLQMLQ TRFPLDYYSI PFPTPTTPLT
GRDGSLASNP YSGDLTKFGR GDASSPAPAT TLAQPQQNQT QTHHTTQQTF LNPALPPGYS
YTSLPYYTGV PGLPSTFQYG PAVFPVAPTS SKQHGVNVSV NASATPFQQP SGYGSHGYNT
GRKYPPPYKH FWTAES*

Mutated AA sequence

MMTSVGTNRA RGNWEQPQNQ NQTQHKQRPQ ATAEQIRLAQ MISDHNDADF EEKVKQLIDI
TGKNQDECVI ALHDCNGDVN RAINVLLEGN PDTHSWEMVG KKKGVSGQKD GGQTESNEEG
KENRDRDRDY SRRRGGPPRR GRVRGQENGL DGTKSGGPSG RGTERGRRGR GRGRGGSGRR
GGRFSAQGMG TFNPADYAEP ANTDDNYGNS SGNTWNNTGH VEPDDGTSAW RTATEEWGTE
DWNEDLSETK IFTASNVSSV PLPAENVTIT AGQRIDLAVL LGKTPSTMEN DSSNLDPSQA
PSLAQPLVFS NSKQTAISQP ASGNTFSHHS MVSMLGKGFG DVGEAKGGST TGSQFLEQFK
TAQALAQLAA QHSQSGSTTT SSWDMGSTTQ SPSLVQYDLK NPSDSAVHSP FTKRQAFTPS
STMMEVFLQE KSPAVATSTA APPPPSSPLP SKSTSAPQMS PGSSDNQSSS PQPAQQKLKQ
QKKKASLTSK IPALAVEMPG SADISGLNLQ FGALQFGSEP VLSDYESTPT TSASSSQAPS
SLYTSTASES SSTISSNQSQ ESGYQSGPIQ STTYTSQNNA QGPLYEQRST QTRRYPSSIS
SSPQKDLTQA KNGFSSVQAT QLQTTQSVEG ATGSAVKSDS PSTSSIPPLN ETVSAASLLT
TTNQHSSSLG GLSHSEEIPN TTTTQHSSTL STQQNTLSSS TSSGRTSTST LLHTSVESEA
NLHSSSSTFS TTSSTVSAPP PVVSVSSSLN SGSSLGLSLG SNSTVTASTR SSVATTSGKA
PPNLPPGVPP LLPNPYIMAP GLLHAYPPQV YGYDDLQMLQ TRFPLDYYSI PFPTPTTPLT
GRDGSLASNP YSGDLTKFGR GDASSPAPAT TLAQPQQNQT QTHHTTQQTF LNPALPPGYS
YTSLPYYTGV PGLPSTFQYG PAVFPVAPTS SKQHGVNVSV NASATPFQQP SGYGSHGYNT
GRKYPPPYKH FWTAES*

Position of stopcodon in wt / mu CDS

2931 / 2931

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

977 / 977

Position of stopcodon in wt / mu cDNA

3098 / 3098

Position of start ATG in wt / mu cDNA

168 / 168

Last intron/exon boundary

3048

Theoretical NMD boundary in CDS

2830

Length of CDS

2931

Coding sequence (CDS) position

661

cDNA position

828

gDNA position

16937

Chromosomal position

154237115

Speed

0.07 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:

1:154237115T>G_7_ENST00000343815

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

Chr1:154237115T>G (GRCh38)

Gene symbol

UBAP2L

Gene constraints

LOEUF: 0.15, LOF (oe): 0.09, misssense (oe): 0.69, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000343815.10

Genbank transcript ID

NM_001127320 (by similarity), NM_001375630 (by similarity), NM_001375629 (by similarity), NM_001375631 (by similarity)

UniProt / AlphaMissense peptide

UBP2L_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.682T>G
g.16937T>G

AA changes

AAE:	F228V	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		228	S	S	G	N	T	W	N	N	T	G	H	F	E	P	D	D	G	T	S	A	W	R	T	A
mutated	not conserved	228	S	S	G	N	T	W	N	N	T	G	H	V	E	P	D	D	G	T	S	A	W	R	T
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	1087	CHAIN		lost
92	234	REGION		lost
210	230	COMPBIAS	Polar residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.527	1
	3.899	1
(flanking)	3.882	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

22

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

1

Original gDNA sequence snippet

CGTGGAACAACACTGGCCACTTTGAACCAGATGATGGGACG

Altered gDNA sequence snippet

CGTGGAACAACACTGGCCACGTTGAACCAGATGATGGGACG

Original cDNA sequence snippet

CGTGGAACAACACTGGCCACTTTGAACCAGATGATGGGACG

Altered cDNA sequence snippet

CGTGGAACAACACTGGCCACGTTGAACCAGATGATGGGACG

Wildtype AA sequence

MMTSVGTNRA RGNWEQPQNQ NQTQHKQRPQ ATAEQIRLAQ MISDHNDADF EEKVKQLIDI
TGKNQDECVI ALHDCNGDVN RAINVLLEGN PDTHSWEMVG KKKGVSGQKD GGQTESNEEG
KENRDRDRDY SRRRGGPPRR GRGASRGREF RGQENGLDGT KSGGPSGRGT ERGRRGRGRG
RGGSGRRGGR FSAQGMGTFN PADYAEPANT DDNYGNSSGN TWNNTGHFEP DDGTSAWRTA
TEEWGTEDWN EDLSETKIFT ASNVSSVPLP AENVTITAGQ RIDLAVLLGK TPSTMENDSS
NLDPSQAPSL AQPLVFSNSK QTAISQPASG NTFSHHSMVS MLGKGFGDVG EAKGGSTTGS
QFLEQFKTAQ ALAQLAAQHS QSGSTTTSSW DMGSTTQSPS LVQYDLKNPS DSAVHSPFTK
RQAFTPSSTM MEVFLQEKSP AVATSTAAPP PPSSPLPSKS TSAPQMSPGS SDNQSSSPQP
AQQKLKQQKK KASLTSKIPA LAVEMPGSAD ISGLNLQFGA LQFGSEPVLS DYESTPTTSA
SSSQAPSSLY TSTASESSST ISSNQSQESG YQSGPIQSTT YTSQNNAQGP LYEQRSTQTR
RYPSSISSSP QKDLTQAKNG FSSVQATQLQ TTQSVEGATG SAVKSDSPST SSIPPLNETV
SAASLLTTTN QHSSSLGGLS HSEEIPNTTT TQHSSTLSTQ QNTLSSSTSS GRTSTSTLLH
TSVESEANLH SSSSTFSTTS STVSAPPPVV SVSSSLNSGS SLGLSLGSNS TVTASTRSSV
ATTSGKAPPN LPPGVPPLLP NPYIMAPGLL HAYPPQVYGY DDLQMLQTRF PLDYYSIPFP
TPTTPLTGRD GSLASNPYSG DLTKFGRGDA SSPAPATTLA QPQQNQTQTH HTTQQTFLNP
ALPPGYSYTS LPYYTGVPGL PSTFQYGPAV FPVAPTSSKQ HGVNVSVNAS ATPFQQPSGY
GSHGYNTGRK YPPPYKHFWT AES*

Mutated AA sequence

MMTSVGTNRA RGNWEQPQNQ NQTQHKQRPQ ATAEQIRLAQ MISDHNDADF EEKVKQLIDI
TGKNQDECVI ALHDCNGDVN RAINVLLEGN PDTHSWEMVG KKKGVSGQKD GGQTESNEEG
KENRDRDRDY SRRRGGPPRR GRGASRGREF RGQENGLDGT KSGGPSGRGT ERGRRGRGRG
RGGSGRRGGR FSAQGMGTFN PADYAEPANT DDNYGNSSGN TWNNTGHVEP DDGTSAWRTA
TEEWGTEDWN EDLSETKIFT ASNVSSVPLP AENVTITAGQ RIDLAVLLGK TPSTMENDSS
NLDPSQAPSL AQPLVFSNSK QTAISQPASG NTFSHHSMVS MLGKGFGDVG EAKGGSTTGS
QFLEQFKTAQ ALAQLAAQHS QSGSTTTSSW DMGSTTQSPS LVQYDLKNPS DSAVHSPFTK
RQAFTPSSTM MEVFLQEKSP AVATSTAAPP PPSSPLPSKS TSAPQMSPGS SDNQSSSPQP
AQQKLKQQKK KASLTSKIPA LAVEMPGSAD ISGLNLQFGA LQFGSEPVLS DYESTPTTSA
SSSQAPSSLY TSTASESSST ISSNQSQESG YQSGPIQSTT YTSQNNAQGP LYEQRSTQTR
RYPSSISSSP QKDLTQAKNG FSSVQATQLQ TTQSVEGATG SAVKSDSPST SSIPPLNETV
SAASLLTTTN QHSSSLGGLS HSEEIPNTTT TQHSSTLSTQ QNTLSSSTSS GRTSTSTLLH
TSVESEANLH SSSSTFSTTS STVSAPPPVV SVSSSLNSGS SLGLSLGSNS TVTASTRSSV
ATTSGKAPPN LPPGVPPLLP NPYIMAPGLL HAYPPQVYGY DDLQMLQTRF PLDYYSIPFP
TPTTPLTGRD GSLASNPYSG DLTKFGRGDA SSPAPATTLA QPQQNQTQTH HTTQQTFLNP
ALPPGYSYTS LPYYTGVPGL PSTFQYGPAV FPVAPTSSKQ HGVNVSVNAS ATPFQQPSGY
GSHGYNTGRK YPPPYKHFWT AES*

Position of stopcodon in wt / mu CDS

2952 / 2952

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

984 / 984

Position of stopcodon in wt / mu cDNA

3058 / 3058

Position of start ATG in wt / mu cDNA

107 / 107

Last intron/exon boundary

3008

Theoretical NMD boundary in CDS

2851

Length of CDS

2952

Coding sequence (CDS) position

682

cDNA position

788

gDNA position

16937

Chromosomal position

154237115

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

Back to summary table

MutationT@ster 2025

Variant:

1:154237115T>G_3_ENST00000707139

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 93|7 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:154237115T>G (GRCh38)

Gene symbol

UBAP2L

Gene constraints

no data

Ensembl transcript ID

ENST00000707139.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.715T>G
g.16937T>G

AA changes

AAE:	F239V	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		239	S	S	G	N	T	W	N	N	T	G	H	F	E	P	D	D	G	T	S	A	W	R	T	A
mutated	not conserved	239	S	S	G	N	T	W	N	N	T	G	H	V	E	P	D	D	G	T	S	A	W	R	T
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)	2.527	1
	3.899	1
(flanking)	3.882	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

22

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

1

Original gDNA sequence snippet

CGTGGAACAACACTGGCCACTTTGAACCAGATGATGGGACG

Altered gDNA sequence snippet

CGTGGAACAACACTGGCCACGTTGAACCAGATGATGGGACG

Original cDNA sequence snippet

CGTGGAACAACACTGGCCACTTTGAACCAGATGATGGGACG

Altered cDNA sequence snippet

CGTGGAACAACACTGGCCACGTTGAACCAGATGATGGGACG

Wildtype AA sequence

MMTSVGTNRA RGNWEQPQNQ NQTQHKQRPQ ATAEQIRLAQ MISDHNDADF EEKVKQLIDI
TGKNQDECVI ALHDCNGDVN RAINVLLEGN PDTHSWEMVG KKKGVSGQKD GGQTESNEEG
KENRDRDRDY SRRRGGPPRR GRGASRGREC MHGALSKPAV VRGQENGLDG TKSGGPSGRG
TERGRRGRGR GRGGSGRRGG RFSAQGMGTF NPADYAEPAN TDDNYGNSSG NTWNNTGHFE
PDDGTSAWRT ATEEWGTEDW NEDLSETKIF TASNVSSVPL PAENVTITAG QRIDLAVLLG
KTPSTMENDS SNLDPSQAPS LAQPLVFSNS KQTAISQPAS GNTFSHHSMV SMLGKGFGDV
GEAKGGSTTG SQFLEQFKTA QALAQLAAQH SQSGSTTTSS WDMGSTTQSP SLVQYDLKNP
SDSAVHSPFT KRQAFTPSST MMEVFLQEKS PAVATSTAAP PPPSSPLPSK STSAPQMSPG
SSDNQSSSPQ PAQQKLKQQK KKASLTSKIP ALAVEMPGSA DISGLNLQFG ALQFGSEPVL
SDYESTPTTS ASSSQAPSSL YTSTASESSS TISSNQSQES GYQSGPIQST TYTSQNNAQG
PLYEQRSTQT RRYPSSISSS PQKDLTQAKN GFSSVQATQL QTTQSVEGAT GSAVKSDSPS
TSSIPPLNET VSAASLLTTT NQHSSSLGGL SHSEEIPNTT TTQHSSTLST QQNTLSSSTS
SGRTSTSTLL HTSVESEANL HSSSSTFSTT SSTVSAPPPV VSVSSSLNSG SSLGLSLGSN
STVTASTRSS VATTSGKAPP NLPPGVPPLL PNPYIMAPGL LHAYPPQVYG YDDLQMLQTR
FPLDYYSIPF PTPTTPLTGR DGSLASNPYS GDLTKFGRGD ASSPAPATTL AQPQQNQTQT
HHTTQQTFLN PALPPGYSYT SLPYYTGVPG LPSTFQYGPA VFPVAPTSSK QHGVNVSVNA
SATPFQQPSG YGSHGYNTGR KYPPPYKHFW TAES*

Mutated AA sequence

MMTSVGTNRA RGNWEQPQNQ NQTQHKQRPQ ATAEQIRLAQ MISDHNDADF EEKVKQLIDI
TGKNQDECVI ALHDCNGDVN RAINVLLEGN PDTHSWEMVG KKKGVSGQKD GGQTESNEEG
KENRDRDRDY SRRRGGPPRR GRGASRGREC MHGALSKPAV VRGQENGLDG TKSGGPSGRG
TERGRRGRGR GRGGSGRRGG RFSAQGMGTF NPADYAEPAN TDDNYGNSSG NTWNNTGHVE
PDDGTSAWRT ATEEWGTEDW NEDLSETKIF TASNVSSVPL PAENVTITAG QRIDLAVLLG
KTPSTMENDS SNLDPSQAPS LAQPLVFSNS KQTAISQPAS GNTFSHHSMV SMLGKGFGDV
GEAKGGSTTG SQFLEQFKTA QALAQLAAQH SQSGSTTTSS WDMGSTTQSP SLVQYDLKNP
SDSAVHSPFT KRQAFTPSST MMEVFLQEKS PAVATSTAAP PPPSSPLPSK STSAPQMSPG
SSDNQSSSPQ PAQQKLKQQK KKASLTSKIP ALAVEMPGSA DISGLNLQFG ALQFGSEPVL
SDYESTPTTS ASSSQAPSSL YTSTASESSS TISSNQSQES GYQSGPIQST TYTSQNNAQG
PLYEQRSTQT RRYPSSISSS PQKDLTQAKN GFSSVQATQL QTTQSVEGAT GSAVKSDSPS
TSSIPPLNET VSAASLLTTT NQHSSSLGGL SHSEEIPNTT TTQHSSTLST QQNTLSSSTS
SGRTSTSTLL HTSVESEANL HSSSSTFSTT SSTVSAPPPV VSVSSSLNSG SSLGLSLGSN
STVTASTRSS VATTSGKAPP NLPPGVPPLL PNPYIMAPGL LHAYPPQVYG YDDLQMLQTR
FPLDYYSIPF PTPTTPLTGR DGSLASNPYS GDLTKFGRGD ASSPAPATTL AQPQQNQTQT
HHTTQQTFLN PALPPGYSYT SLPYYTGVPG LPSTFQYGPA VFPVAPTSSK QHGVNVSVNA
SATPFQQPSG YGSHGYNTGR KYPPPYKHFW TAES*

Position of stopcodon in wt / mu CDS

2985 / 2985

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

995 / 995

Position of stopcodon in wt / mu cDNA

3044 / 3044

Position of start ATG in wt / mu cDNA

60 / 60

Last intron/exon boundary

2994

Theoretical NMD boundary in CDS

2884

Length of CDS

2985

Coding sequence (CDS) position

715

cDNA position

774

gDNA position

16937

Chromosomal position

154237115

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

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