sujigwak/NVAR huggingface dataset:
UniProt ID: P53814
Variant: A -> V at position 559-559
Variant annotation: in dbSNP:rs5997872
Protein function: Structural protein of the cytoskeleton.
Reference sequence:
MADEALAGLDEGALRKLLEVTADLAERRRIRSAIRELQRQELEREEEALASKRFRAERQDNKENWLHSQQREAEQRAALARLAGQLESMNDVEELTALLRSAGEYEERKLIRAAIRRVRAQEIEAATLAGRLYSGRPNSGSREDSKGLAAHRLEQCEVPEREEQEQQAEVSKPTPTPEGTSQDVTTVTLLLRAPPGSTSSSPASPSSSPTPASPEPPLEPAEAQCLTAEVPGSPEPPPSPPKTTSPEPQESPTLPSTEGQVVNKLLSGPKETPAAQSPTRGPSDTKRADVAGPRPCQRSLSVLSPRQPAQNRESTPLASGPSSFQRAGSVRDRVHKFTSDSPMAARLQDGTPQAALSPLTPARLLGPSLTSTTPASSSSGSSSRGPSDTSSRFSKEQRGVAQPLAQLRSCPQEEGPRGRGLAARPLENRAGGPVARSEEPGAPLPVAVGTAEPGGSMKTTFTIEIKDGRGQASTGRVLLPTGNQRAELTLGLRAPPTLLSTSSGGKSTITRVNSPGTLARLGSVTHVTSFSHAPPSSRGGCSIKMEAEPAEPLAAAVEAANGAEQTRVNKAPEGRSPLSAEELMTIEDEGVLDKMLDQSTDFEERKLIRAALRELRQRKRDQRDKERERRLQEARGRPGEGRGNTATETTTRHSQRAADGSAVSTVTKTERLVHSNDGTRTARTTTVESSFVRRSENGSGSTMMQTKTFSSSSSSKKMGSIFDREDQASPRAGSLAALEKRQAEKKKELMKAQSLPKTSASQARKAMIEKLEKEGAAGSPGGPRAAVQRSTSFGVPNANSIKQMLLDWCRAKTRGYEHVDIQNFSSSWSDGMAFCALVHNFFPEAFDYGQLSPQNRRQNFEVAFSSAEMLVDCVPLVEVDDMMIMGKKPDPKCVFTYVQSLYNHLRRHELRLRGKNV
UniProt ID: P53814
Variant: A -> T at position 580-580
Variant annotation: in dbSNP:rs12158015
Protein function: Structural protein of the cytoskeleton.
Reference sequence:
MADEALAGLDEGALRKLLEVTADLAERRRIRSAIRELQRQELEREEEALASKRFRAERQDNKENWLHSQQREAEQRAALARLAGQLESMNDVEELTALLRSAGEYEERKLIRAAIRRVRAQEIEAATLAGRLYSGRPNSGSREDSKGLAAHRLEQCEVPEREEQEQQAEVSKPTPTPEGTSQDVTTVTLLLRAPPGSTSSSPASPSSSPTPASPEPPLEPAEAQCLTAEVPGSPEPPPSPPKTTSPEPQESPTLPSTEGQVVNKLLSGPKETPAAQSPTRGPSDTKRADVAGPRPCQRSLSVLSPRQPAQNRESTPLASGPSSFQRAGSVRDRVHKFTSDSPMAARLQDGTPQAALSPLTPARLLGPSLTSTTPASSSSGSSSRGPSDTSSRFSKEQRGVAQPLAQLRSCPQEEGPRGRGLAARPLENRAGGPVARSEEPGAPLPVAVGTAEPGGSMKTTFTIEIKDGRGQASTGRVLLPTGNQRAELTLGLRAPPTLLSTSSGGKSTITRVNSPGTLARLGSVTHVTSFSHAPPSSRGGCSIKMEAEPAEPLAAAVEAANGAEQTRVNKAPEGRSPLSAEELMTIEDEGVLDKMLDQSTDFEERKLIRAALRELRQRKRDQRDKERERRLQEARGRPGEGRGNTATETTTRHSQRAADGSAVSTVTKTERLVHSNDGTRTARTTTVESSFVRRSENGSGSTMMQTKTFSSSSSSKKMGSIFDREDQASPRAGSLAALEKRQAEKKKELMKAQSLPKTSASQARKAMIEKLEKEGAAGSPGGPRAAVQRSTSFGVPNANSIKQMLLDWCRAKTRGYEHVDIQNFSSSWSDGMAFCALVHNFFPEAFDYGQLSPQNRRQNFEVAFSSAEMLVDCVPLVEVDDMMIMGKKPDPKCVFTYVQSLYNHLRRHELRLRGKNV
UniProt ID: P53814
Variant: R -> Q at position 637-637
Variant annotation: in a colorectal cancer sample; somatic mutation; dbSNP:rs777851029
Protein function: Structural protein of the cytoskeleton.
Reference sequence:
MADEALAGLDEGALRKLLEVTADLAERRRIRSAIRELQRQELEREEEALASKRFRAERQDNKENWLHSQQREAEQRAALARLAGQLESMNDVEELTALLRSAGEYEERKLIRAAIRRVRAQEIEAATLAGRLYSGRPNSGSREDSKGLAAHRLEQCEVPEREEQEQQAEVSKPTPTPEGTSQDVTTVTLLLRAPPGSTSSSPASPSSSPTPASPEPPLEPAEAQCLTAEVPGSPEPPPSPPKTTSPEPQESPTLPSTEGQVVNKLLSGPKETPAAQSPTRGPSDTKRADVAGPRPCQRSLSVLSPRQPAQNRESTPLASGPSSFQRAGSVRDRVHKFTSDSPMAARLQDGTPQAALSPLTPARLLGPSLTSTTPASSSSGSSSRGPSDTSSRFSKEQRGVAQPLAQLRSCPQEEGPRGRGLAARPLENRAGGPVARSEEPGAPLPVAVGTAEPGGSMKTTFTIEIKDGRGQASTGRVLLPTGNQRAELTLGLRAPPTLLSTSSGGKSTITRVNSPGTLARLGSVTHVTSFSHAPPSSRGGCSIKMEAEPAEPLAAAVEAANGAEQTRVNKAPEGRSPLSAEELMTIEDEGVLDKMLDQSTDFEERKLIRAALRELRQRKRDQRDKERERRLQEARGRPGEGRGNTATETTTRHSQRAADGSAVSTVTKTERLVHSNDGTRTARTTTVESSFVRRSENGSGSTMMQTKTFSSSSSSKKMGSIFDREDQASPRAGSLAALEKRQAEKKKELMKAQSLPKTSASQARKAMIEKLEKEGAAGSPGGPRAAVQRSTSFGVPNANSIKQMLLDWCRAKTRGYEHVDIQNFSSSWSDGMAFCALVHNFFPEAFDYGQLSPQNRRQNFEVAFSSAEMLVDCVPLVEVDDMMIMGKKPDPKCVFTYVQSLYNHLRRHELRLRGKNV
UniProt ID: P53814
Variant: R -> C at position 642-642
Variant annotation: in dbSNP:rs34292278
Protein function: Structural protein of the cytoskeleton.
Reference sequence:
MADEALAGLDEGALRKLLEVTADLAERRRIRSAIRELQRQELEREEEALASKRFRAERQDNKENWLHSQQREAEQRAALARLAGQLESMNDVEELTALLRSAGEYEERKLIRAAIRRVRAQEIEAATLAGRLYSGRPNSGSREDSKGLAAHRLEQCEVPEREEQEQQAEVSKPTPTPEGTSQDVTTVTLLLRAPPGSTSSSPASPSSSPTPASPEPPLEPAEAQCLTAEVPGSPEPPPSPPKTTSPEPQESPTLPSTEGQVVNKLLSGPKETPAAQSPTRGPSDTKRADVAGPRPCQRSLSVLSPRQPAQNRESTPLASGPSSFQRAGSVRDRVHKFTSDSPMAARLQDGTPQAALSPLTPARLLGPSLTSTTPASSSSGSSSRGPSDTSSRFSKEQRGVAQPLAQLRSCPQEEGPRGRGLAARPLENRAGGPVARSEEPGAPLPVAVGTAEPGGSMKTTFTIEIKDGRGQASTGRVLLPTGNQRAELTLGLRAPPTLLSTSSGGKSTITRVNSPGTLARLGSVTHVTSFSHAPPSSRGGCSIKMEAEPAEPLAAAVEAANGAEQTRVNKAPEGRSPLSAEELMTIEDEGVLDKMLDQSTDFEERKLIRAALRELRQRKRDQRDKERERRLQEARGRPGEGRGNTATETTTRHSQRAADGSAVSTVTKTERLVHSNDGTRTARTTTVESSFVRRSENGSGSTMMQTKTFSSSSSSKKMGSIFDREDQASPRAGSLAALEKRQAEKKKELMKAQSLPKTSASQARKAMIEKLEKEGAAGSPGGPRAAVQRSTSFGVPNANSIKQMLLDWCRAKTRGYEHVDIQNFSSSWSDGMAFCALVHNFFPEAFDYGQLSPQNRRQNFEVAFSSAEMLVDCVPLVEVDDMMIMGKKPDPKCVFTYVQSLYNHLRRHELRLRGKNV
UniProt ID: P53814
Variant: A -> V at position 763-763
Variant annotation: in a colorectal cancer sample; somatic mutation; dbSNP:rs2043824956
Protein function: Structural protein of the cytoskeleton.
Reference sequence:
MADEALAGLDEGALRKLLEVTADLAERRRIRSAIRELQRQELEREEEALASKRFRAERQDNKENWLHSQQREAEQRAALARLAGQLESMNDVEELTALLRSAGEYEERKLIRAAIRRVRAQEIEAATLAGRLYSGRPNSGSREDSKGLAAHRLEQCEVPEREEQEQQAEVSKPTPTPEGTSQDVTTVTLLLRAPPGSTSSSPASPSSSPTPASPEPPLEPAEAQCLTAEVPGSPEPPPSPPKTTSPEPQESPTLPSTEGQVVNKLLSGPKETPAAQSPTRGPSDTKRADVAGPRPCQRSLSVLSPRQPAQNRESTPLASGPSSFQRAGSVRDRVHKFTSDSPMAARLQDGTPQAALSPLTPARLLGPSLTSTTPASSSSGSSSRGPSDTSSRFSKEQRGVAQPLAQLRSCPQEEGPRGRGLAARPLENRAGGPVARSEEPGAPLPVAVGTAEPGGSMKTTFTIEIKDGRGQASTGRVLLPTGNQRAELTLGLRAPPTLLSTSSGGKSTITRVNSPGTLARLGSVTHVTSFSHAPPSSRGGCSIKMEAEPAEPLAAAVEAANGAEQTRVNKAPEGRSPLSAEELMTIEDEGVLDKMLDQSTDFEERKLIRAALRELRQRKRDQRDKERERRLQEARGRPGEGRGNTATETTTRHSQRAADGSAVSTVTKTERLVHSNDGTRTARTTTVESSFVRRSENGSGSTMMQTKTFSSSSSSKKMGSIFDREDQASPRAGSLAALEKRQAEKKKELMKAQSLPKTSASQARKAMIEKLEKEGAAGSPGGPRAAVQRSTSFGVPNANSIKQMLLDWCRAKTRGYEHVDIQNFSSSWSDGMAFCALVHNFFPEAFDYGQLSPQNRRQNFEVAFSSAEMLVDCVPLVEVDDMMIMGKKPDPKCVFTYVQSLYNHLRRHELRLRGKNV
UniProt ID: P53919
Variant: P -> A at position 378-378
Variant annotation: in strain: YJM269, YJM270, YJM326 and YJM1129
Protein function: RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and disappears during maturation of the complex and is replaced by GAR1 to yield mature H/ACA snoRNPs complex. Acts as a competitive binder for CBF5 probably required to prevent non-cognate RNAs from being loaded during transport of the particle by inducing a non-productive conformation of CBF5.
Reference sequence:
MSDDLFSKALENPDQDLNVELPKDDVDLGLLGDGGNERKTDEPVADAERSTGLGSGSSESESDSGSDSDSDSGSSGSEDDSADQDVEGEDEGGDAIENEDEDEDPSPSGPILSKNEILEETVPELPEDYEISEKTIITPIGVLKSAFENNIIIHATMSGEKRVLKEGSIFCLEDRTLIGMLTEVFGPLQNPFYRIKLPDSKKNLFDELKVRLGEKAFIVTPDAHWIDTFELKRNKGTDASNGYDEELPEEEQEFSDDEKEALFKKMKKQQRQRKKRDNRKLANDSDNVKVKRARQPKANSLPKLVPPLGMSSNAPMQHGYKSRNARENIKRESSATSNRNGSSPVPITQHHQQQFSANNYPFPQQPNGMPYPPYSPFPQPTNFQYPPPPFGQATPAQFSNTVPYGSLPPAYNNMSPPTQQSFMPMTQSQPPLPYGVPPMNQMQNPMYIQPPPQAPPQGNGNFQQVMELHQILLQQQQQQHQYQHQHQQDPRT
UniProt ID: P53919
Variant: M -> I at position 423-423
Variant annotation: in strain: YJM627
Protein function: RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and disappears during maturation of the complex and is replaced by GAR1 to yield mature H/ACA snoRNPs complex. Acts as a competitive binder for CBF5 probably required to prevent non-cognate RNAs from being loaded during transport of the particle by inducing a non-productive conformation of CBF5.
Reference sequence:
MSDDLFSKALENPDQDLNVELPKDDVDLGLLGDGGNERKTDEPVADAERSTGLGSGSSESESDSGSDSDSDSGSSGSEDDSADQDVEGEDEGGDAIENEDEDEDPSPSGPILSKNEILEETVPELPEDYEISEKTIITPIGVLKSAFENNIIIHATMSGEKRVLKEGSIFCLEDRTLIGMLTEVFGPLQNPFYRIKLPDSKKNLFDELKVRLGEKAFIVTPDAHWIDTFELKRNKGTDASNGYDEELPEEEQEFSDDEKEALFKKMKKQQRQRKKRDNRKLANDSDNVKVKRARQPKANSLPKLVPPLGMSSNAPMQHGYKSRNARENIKRESSATSNRNGSSPVPITQHHQQQFSANNYPFPQQPNGMPYPPYSPFPQPTNFQYPPPPFGQATPAQFSNTVPYGSLPPAYNNMSPPTQQSFMPMTQSQPPLPYGVPPMNQMQNPMYIQPPPQAPPQGNGNFQQVMELHQILLQQQQQQHQYQHQHQQDPRT
UniProt ID: P53919
Variant: P -> S at position 424-424
Variant annotation: in strain: YJM269, YJM270, YJM326 and YJM1129
Protein function: RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and disappears during maturation of the complex and is replaced by GAR1 to yield mature H/ACA snoRNPs complex. Acts as a competitive binder for CBF5 probably required to prevent non-cognate RNAs from being loaded during transport of the particle by inducing a non-productive conformation of CBF5.
Reference sequence:
MSDDLFSKALENPDQDLNVELPKDDVDLGLLGDGGNERKTDEPVADAERSTGLGSGSSESESDSGSDSDSDSGSSGSEDDSADQDVEGEDEGGDAIENEDEDEDPSPSGPILSKNEILEETVPELPEDYEISEKTIITPIGVLKSAFENNIIIHATMSGEKRVLKEGSIFCLEDRTLIGMLTEVFGPLQNPFYRIKLPDSKKNLFDELKVRLGEKAFIVTPDAHWIDTFELKRNKGTDASNGYDEELPEEEQEFSDDEKEALFKKMKKQQRQRKKRDNRKLANDSDNVKVKRARQPKANSLPKLVPPLGMSSNAPMQHGYKSRNARENIKRESSATSNRNGSSPVPITQHHQQQFSANNYPFPQQPNGMPYPPYSPFPQPTNFQYPPPPFGQATPAQFSNTVPYGSLPPAYNNMSPPTQQSFMPMTQSQPPLPYGVPPMNQMQNPMYIQPPPQAPPQGNGNFQQVMELHQILLQQQQQQHQYQHQHQQDPRT
UniProt ID: P53919
Variant: T -> A at position 426-426
Variant annotation: in strain: SK1, V1-09, YJM269, YJM270, YJM280, YJM320, YJM326, YJM339, YJM627, YJM789 and YJM1129
Protein function: RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and disappears during maturation of the complex and is replaced by GAR1 to yield mature H/ACA snoRNPs complex. Acts as a competitive binder for CBF5 probably required to prevent non-cognate RNAs from being loaded during transport of the particle by inducing a non-productive conformation of CBF5.
Reference sequence:
MSDDLFSKALENPDQDLNVELPKDDVDLGLLGDGGNERKTDEPVADAERSTGLGSGSSESESDSGSDSDSDSGSSGSEDDSADQDVEGEDEGGDAIENEDEDEDPSPSGPILSKNEILEETVPELPEDYEISEKTIITPIGVLKSAFENNIIIHATMSGEKRVLKEGSIFCLEDRTLIGMLTEVFGPLQNPFYRIKLPDSKKNLFDELKVRLGEKAFIVTPDAHWIDTFELKRNKGTDASNGYDEELPEEEQEFSDDEKEALFKKMKKQQRQRKKRDNRKLANDSDNVKVKRARQPKANSLPKLVPPLGMSSNAPMQHGYKSRNARENIKRESSATSNRNGSSPVPITQHHQQQFSANNYPFPQQPNGMPYPPYSPFPQPTNFQYPPPPFGQATPAQFSNTVPYGSLPPAYNNMSPPTQQSFMPMTQSQPPLPYGVPPMNQMQNPMYIQPPPQAPPQGNGNFQQVMELHQILLQQQQQQHQYQHQHQQDPRT
UniProt ID: P53919
Variant: H -> N at position 480-480
Variant annotation: in strain: V1-09 and YJM627
Protein function: RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and disappears during maturation of the complex and is replaced by GAR1 to yield mature H/ACA snoRNPs complex. Acts as a competitive binder for CBF5 probably required to prevent non-cognate RNAs from being loaded during transport of the particle by inducing a non-productive conformation of CBF5.
Reference sequence:
MSDDLFSKALENPDQDLNVELPKDDVDLGLLGDGGNERKTDEPVADAERSTGLGSGSSESESDSGSDSDSDSGSSGSEDDSADQDVEGEDEGGDAIENEDEDEDPSPSGPILSKNEILEETVPELPEDYEISEKTIITPIGVLKSAFENNIIIHATMSGEKRVLKEGSIFCLEDRTLIGMLTEVFGPLQNPFYRIKLPDSKKNLFDELKVRLGEKAFIVTPDAHWIDTFELKRNKGTDASNGYDEELPEEEQEFSDDEKEALFKKMKKQQRQRKKRDNRKLANDSDNVKVKRARQPKANSLPKLVPPLGMSSNAPMQHGYKSRNARENIKRESSATSNRNGSSPVPITQHHQQQFSANNYPFPQQPNGMPYPPYSPFPQPTNFQYPPPPFGQATPAQFSNTVPYGSLPPAYNNMSPPTQQSFMPMTQSQPPLPYGVPPMNQMQNPMYIQPPPQAPPQGNGNFQQVMELHQILLQQQQQQHQYQHQHQQDPRT
UniProt ID: P53921
Variant: R -> Q at position 11-11
Variant annotation: in strain: V1-09 and YJM339
Protein function: Component of the mitochondrial ribosome (mitoribosome), a dedicated translation machinery responsible for the synthesis of mitochondrial genome-encoded proteins, including at least some of the essential transmembrane subunits of the mitochondrial respiratory chain. The mitoribosomes are attached to the mitochondrial inner membrane and translation products are cotranslationally integrated into the membrane.
Reference sequence:
MKISLHNKRQRGDQNQNMSVFNVLKPLLKGSNSFKVKLNGFLFNNVSTITIRTLMKTHKGTAKRWRRTGNTFKRGIAGRKHGNIGWSHRSLKALTGRKIAHPAYSKHLKRLLPYH
UniProt ID: P53921
Variant: S -> P at position 31-31
Variant annotation: in strain: YJM269, YJM270, YJM326 and YJM1129
Protein function: Component of the mitochondrial ribosome (mitoribosome), a dedicated translation machinery responsible for the synthesis of mitochondrial genome-encoded proteins, including at least some of the essential transmembrane subunits of the mitochondrial respiratory chain. The mitoribosomes are attached to the mitochondrial inner membrane and translation products are cotranslationally integrated into the membrane.
Reference sequence:
MKISLHNKRQRGDQNQNMSVFNVLKPLLKGSNSFKVKLNGFLFNNVSTITIRTLMKTHKGTAKRWRRTGNTFKRGIAGRKHGNIGWSHRSLKALTGRKIAHPAYSKHLKRLLPYH
UniProt ID: P53923
Variant: P -> S at position 7-7
Variant annotation: in strain: YJM230 and YJM320
Protein function: Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with NCS6 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position. Prior mcm(5) tRNA modification by the elongator complex is required for 2-thiolation. May also be involved in protein urmylation and in invasive and pseudohyphal growth. Inhibits replication of Brome mosaic virus.
Reference sequence:
MECQRCPASARNPATVESRKEKFCDECFIKFVSTKQRKQMMKDEYFRNLFKVIYPFEKEGSVSKILLPLSHSDSGSLVMLDIVHDLLLEQTKQHNNRTGFTVDVLTVFTEENVSVIKERMESLINEKMSQLNKISNIFNVHFIDVNEFFNNASEVSTFIIDNENFEIFSKSKSVDDSNILTLKEILGKYCLNNSSRSDLISIIKTQLIKHFAYENGYNAIMWGHSMTKLSEVIISLVVKGKGSQIATFLDSESFDTLNNKPCKYKNLYPMKDLLSVEIESFLQIRNLAQFLINVEETNVKPNCLIARKSLPSLGQQKLVKNMTINEITNKYFQDIQNDYSNIISTVLRTADKLTQPKSSMAKPSQCQICQSKIYTNPSNWLNRITVTSPYPVETTEEKYLFKQWQDSKLGQSHTHYVELLNEIKQGASNSLDVEDGDVKLCYGCLILLNTSIKDKNLVWPKVDTMDITANATNKNKELSQILDQFEINSDGEE
UniProt ID: P53923
Variant: H -> L at position 71-71
Variant annotation: in strain: SK1, V1-09, YJM1129, YJM269, YJM270, YJM320, YJM326, YJM230, YJM339 and YJM627
Protein function: Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with NCS6 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position. Prior mcm(5) tRNA modification by the elongator complex is required for 2-thiolation. May also be involved in protein urmylation and in invasive and pseudohyphal growth. Inhibits replication of Brome mosaic virus.
Reference sequence:
MECQRCPASARNPATVESRKEKFCDECFIKFVSTKQRKQMMKDEYFRNLFKVIYPFEKEGSVSKILLPLSHSDSGSLVMLDIVHDLLLEQTKQHNNRTGFTVDVLTVFTEENVSVIKERMESLINEKMSQLNKISNIFNVHFIDVNEFFNNASEVSTFIIDNENFEIFSKSKSVDDSNILTLKEILGKYCLNNSSRSDLISIIKTQLIKHFAYENGYNAIMWGHSMTKLSEVIISLVVKGKGSQIATFLDSESFDTLNNKPCKYKNLYPMKDLLSVEIESFLQIRNLAQFLINVEETNVKPNCLIARKSLPSLGQQKLVKNMTINEITNKYFQDIQNDYSNIISTVLRTADKLTQPKSSMAKPSQCQICQSKIYTNPSNWLNRITVTSPYPVETTEEKYLFKQWQDSKLGQSHTHYVELLNEIKQGASNSLDVEDGDVKLCYGCLILLNTSIKDKNLVWPKVDTMDITANATNKNKELSQILDQFEINSDGEE
UniProt ID: P53923
Variant: N -> S at position 193-193
Variant annotation: in strain: SK1, V1-09, YJM230, YJM320 and YJM339
Protein function: Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with NCS6 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position. Prior mcm(5) tRNA modification by the elongator complex is required for 2-thiolation. May also be involved in protein urmylation and in invasive and pseudohyphal growth. Inhibits replication of Brome mosaic virus.
Reference sequence:
MECQRCPASARNPATVESRKEKFCDECFIKFVSTKQRKQMMKDEYFRNLFKVIYPFEKEGSVSKILLPLSHSDSGSLVMLDIVHDLLLEQTKQHNNRTGFTVDVLTVFTEENVSVIKERMESLINEKMSQLNKISNIFNVHFIDVNEFFNNASEVSTFIIDNENFEIFSKSKSVDDSNILTLKEILGKYCLNNSSRSDLISIIKTQLIKHFAYENGYNAIMWGHSMTKLSEVIISLVVKGKGSQIATFLDSESFDTLNNKPCKYKNLYPMKDLLSVEIESFLQIRNLAQFLINVEETNVKPNCLIARKSLPSLGQQKLVKNMTINEITNKYFQDIQNDYSNIISTVLRTADKLTQPKSSMAKPSQCQICQSKIYTNPSNWLNRITVTSPYPVETTEEKYLFKQWQDSKLGQSHTHYVELLNEIKQGASNSLDVEDGDVKLCYGCLILLNTSIKDKNLVWPKVDTMDITANATNKNKELSQILDQFEINSDGEE
UniProt ID: P53923
Variant: L -> S at position 409-409
Variant annotation: in strain: YJM627
Protein function: Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with NCS6 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position. Prior mcm(5) tRNA modification by the elongator complex is required for 2-thiolation. May also be involved in protein urmylation and in invasive and pseudohyphal growth. Inhibits replication of Brome mosaic virus.
Reference sequence:
MECQRCPASARNPATVESRKEKFCDECFIKFVSTKQRKQMMKDEYFRNLFKVIYPFEKEGSVSKILLPLSHSDSGSLVMLDIVHDLLLEQTKQHNNRTGFTVDVLTVFTEENVSVIKERMESLINEKMSQLNKISNIFNVHFIDVNEFFNNASEVSTFIIDNENFEIFSKSKSVDDSNILTLKEILGKYCLNNSSRSDLISIIKTQLIKHFAYENGYNAIMWGHSMTKLSEVIISLVVKGKGSQIATFLDSESFDTLNNKPCKYKNLYPMKDLLSVEIESFLQIRNLAQFLINVEETNVKPNCLIARKSLPSLGQQKLVKNMTINEITNKYFQDIQNDYSNIISTVLRTADKLTQPKSSMAKPSQCQICQSKIYTNPSNWLNRITVTSPYPVETTEEKYLFKQWQDSKLGQSHTHYVELLNEIKQGASNSLDVEDGDVKLCYGCLILLNTSIKDKNLVWPKVDTMDITANATNKNKELSQILDQFEINSDGEE
UniProt ID: P53923
Variant: S -> G at position 428-428
Variant annotation: in strain: YJM627
Protein function: Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with NCS6 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position. Prior mcm(5) tRNA modification by the elongator complex is required for 2-thiolation. May also be involved in protein urmylation and in invasive and pseudohyphal growth. Inhibits replication of Brome mosaic virus.
Reference sequence:
MECQRCPASARNPATVESRKEKFCDECFIKFVSTKQRKQMMKDEYFRNLFKVIYPFEKEGSVSKILLPLSHSDSGSLVMLDIVHDLLLEQTKQHNNRTGFTVDVLTVFTEENVSVIKERMESLINEKMSQLNKISNIFNVHFIDVNEFFNNASEVSTFIIDNENFEIFSKSKSVDDSNILTLKEILGKYCLNNSSRSDLISIIKTQLIKHFAYENGYNAIMWGHSMTKLSEVIISLVVKGKGSQIATFLDSESFDTLNNKPCKYKNLYPMKDLLSVEIESFLQIRNLAQFLINVEETNVKPNCLIARKSLPSLGQQKLVKNMTINEITNKYFQDIQNDYSNIISTVLRTADKLTQPKSSMAKPSQCQICQSKIYTNPSNWLNRITVTSPYPVETTEEKYLFKQWQDSKLGQSHTHYVELLNEIKQGASNSLDVEDGDVKLCYGCLILLNTSIKDKNLVWPKVDTMDITANATNKNKELSQILDQFEINSDGEE
UniProt ID: P53923
Variant: G -> S at position 436-436
Variant annotation: in strain: YJM230 and YJM320
Protein function: Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with NCS6 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position. Prior mcm(5) tRNA modification by the elongator complex is required for 2-thiolation. May also be involved in protein urmylation and in invasive and pseudohyphal growth. Inhibits replication of Brome mosaic virus.
Reference sequence:
MECQRCPASARNPATVESRKEKFCDECFIKFVSTKQRKQMMKDEYFRNLFKVIYPFEKEGSVSKILLPLSHSDSGSLVMLDIVHDLLLEQTKQHNNRTGFTVDVLTVFTEENVSVIKERMESLINEKMSQLNKISNIFNVHFIDVNEFFNNASEVSTFIIDNENFEIFSKSKSVDDSNILTLKEILGKYCLNNSSRSDLISIIKTQLIKHFAYENGYNAIMWGHSMTKLSEVIISLVVKGKGSQIATFLDSESFDTLNNKPCKYKNLYPMKDLLSVEIESFLQIRNLAQFLINVEETNVKPNCLIARKSLPSLGQQKLVKNMTINEITNKYFQDIQNDYSNIISTVLRTADKLTQPKSSMAKPSQCQICQSKIYTNPSNWLNRITVTSPYPVETTEEKYLFKQWQDSKLGQSHTHYVELLNEIKQGASNSLDVEDGDVKLCYGCLILLNTSIKDKNLVWPKVDTMDITANATNKNKELSQILDQFEINSDGEE
UniProt ID: P53923
Variant: K -> N at position 474-474
Variant annotation: in strain: YJM1129, YJM269, YJM270, YJM326 and YJM627
Protein function: Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with NCS6 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position. Prior mcm(5) tRNA modification by the elongator complex is required for 2-thiolation. May also be involved in protein urmylation and in invasive and pseudohyphal growth. Inhibits replication of Brome mosaic virus.
Reference sequence:
MECQRCPASARNPATVESRKEKFCDECFIKFVSTKQRKQMMKDEYFRNLFKVIYPFEKEGSVSKILLPLSHSDSGSLVMLDIVHDLLLEQTKQHNNRTGFTVDVLTVFTEENVSVIKERMESLINEKMSQLNKISNIFNVHFIDVNEFFNNASEVSTFIIDNENFEIFSKSKSVDDSNILTLKEILGKYCLNNSSRSDLISIIKTQLIKHFAYENGYNAIMWGHSMTKLSEVIISLVVKGKGSQIATFLDSESFDTLNNKPCKYKNLYPMKDLLSVEIESFLQIRNLAQFLINVEETNVKPNCLIARKSLPSLGQQKLVKNMTINEITNKYFQDIQNDYSNIISTVLRTADKLTQPKSSMAKPSQCQICQSKIYTNPSNWLNRITVTSPYPVETTEEKYLFKQWQDSKLGQSHTHYVELLNEIKQGASNSLDVEDGDVKLCYGCLILLNTSIKDKNLVWPKVDTMDITANATNKNKELSQILDQFEINSDGEE
UniProt ID: P53924
Variant: T -> A at position 13-13
Variant annotation: in strain: YJM 269, YJM 270, YJM 326 and YJM 1129
Protein function: E3 ubiquitin-protein ligase which functions in cell cycle retarding in conjunction with the UBC4 and UBC13/MMS2 complex, 2 E2 ubiquitin conjugating enzymes. Involved in nutritional control of the cell cycle. Required for proper spindle positioning, likely regulating septin ring deposition at the bud neck.
Reference sequence:
MYTPIPANTPAPTAPTSSMTSNSSSASNANTTSSSGINPRNRASGTPSNERARPASGISSFLNTFGIRQNSQTASSSAAPDQRLFGTTPSNSHMSVAMESIDTAPQQQEPRLHHPIQMPLSAQFHVHRNYQLPISISLTAPTTTDHQQSSAHNFEGNNVGNVQESLNQRQPNGTNNTTTSIISMAPAATTRNIVGGADGSTIVNNSQEMYKNLRHLIYAANQPNGTEILHLDLPATSAEESNNMFNVDEVTLKQRKDKHGLFSIRLTPFIDSSSTTNQGLFFEPIIRKAGPGSQLVIGRYTERVRDAISKIPEQYHPVVFKSKVVSRTHGCFKVDSQGNWYIKDVKSSSGTFLNHQRLSPASSLSKDTPLRDGDILQLGMDFRGGTEEIYRCVRMRIELNRSWKLKANSFNKEALQRLQNLQKLTTGIEEEDCSICLCKIKPCQAIFISPCAHSWHFRCVRRLVMLSYPQFVCPNCRSSCDLEASFESSDEEDESDVESEGDQLVDQLSVLMETSKDVDSHP
UniProt ID: P53924
Variant: R -> H at position 111-111
Variant annotation: in strain: YJM 269, YJM 270, YJM 326 and YJM 1129
Protein function: E3 ubiquitin-protein ligase which functions in cell cycle retarding in conjunction with the UBC4 and UBC13/MMS2 complex, 2 E2 ubiquitin conjugating enzymes. Involved in nutritional control of the cell cycle. Required for proper spindle positioning, likely regulating septin ring deposition at the bud neck.
Reference sequence:
MYTPIPANTPAPTAPTSSMTSNSSSASNANTTSSSGINPRNRASGTPSNERARPASGISSFLNTFGIRQNSQTASSSAAPDQRLFGTTPSNSHMSVAMESIDTAPQQQEPRLHHPIQMPLSAQFHVHRNYQLPISISLTAPTTTDHQQSSAHNFEGNNVGNVQESLNQRQPNGTNNTTTSIISMAPAATTRNIVGGADGSTIVNNSQEMYKNLRHLIYAANQPNGTEILHLDLPATSAEESNNMFNVDEVTLKQRKDKHGLFSIRLTPFIDSSSTTNQGLFFEPIIRKAGPGSQLVIGRYTERVRDAISKIPEQYHPVVFKSKVVSRTHGCFKVDSQGNWYIKDVKSSSGTFLNHQRLSPASSLSKDTPLRDGDILQLGMDFRGGTEEIYRCVRMRIELNRSWKLKANSFNKEALQRLQNLQKLTTGIEEEDCSICLCKIKPCQAIFISPCAHSWHFRCVRRLVMLSYPQFVCPNCRSSCDLEASFESSDEEDESDVESEGDQLVDQLSVLMETSKDVDSHP
UniProt ID: P53924
Variant: S -> L at position 149-149
Variant annotation: in strain: YJM 269, YJM 270, YJM 326 and YJM 1129
Protein function: E3 ubiquitin-protein ligase which functions in cell cycle retarding in conjunction with the UBC4 and UBC13/MMS2 complex, 2 E2 ubiquitin conjugating enzymes. Involved in nutritional control of the cell cycle. Required for proper spindle positioning, likely regulating septin ring deposition at the bud neck.
Reference sequence:
MYTPIPANTPAPTAPTSSMTSNSSSASNANTTSSSGINPRNRASGTPSNERARPASGISSFLNTFGIRQNSQTASSSAAPDQRLFGTTPSNSHMSVAMESIDTAPQQQEPRLHHPIQMPLSAQFHVHRNYQLPISISLTAPTTTDHQQSSAHNFEGNNVGNVQESLNQRQPNGTNNTTTSIISMAPAATTRNIVGGADGSTIVNNSQEMYKNLRHLIYAANQPNGTEILHLDLPATSAEESNNMFNVDEVTLKQRKDKHGLFSIRLTPFIDSSSTTNQGLFFEPIIRKAGPGSQLVIGRYTERVRDAISKIPEQYHPVVFKSKVVSRTHGCFKVDSQGNWYIKDVKSSSGTFLNHQRLSPASSLSKDTPLRDGDILQLGMDFRGGTEEIYRCVRMRIELNRSWKLKANSFNKEALQRLQNLQKLTTGIEEEDCSICLCKIKPCQAIFISPCAHSWHFRCVRRLVMLSYPQFVCPNCRSSCDLEASFESSDEEDESDVESEGDQLVDQLSVLMETSKDVDSHP
UniProt ID: P53924
Variant: S -> T at position 165-165
Variant annotation: in strain: YJM 267
Protein function: E3 ubiquitin-protein ligase which functions in cell cycle retarding in conjunction with the UBC4 and UBC13/MMS2 complex, 2 E2 ubiquitin conjugating enzymes. Involved in nutritional control of the cell cycle. Required for proper spindle positioning, likely regulating septin ring deposition at the bud neck.
Reference sequence:
MYTPIPANTPAPTAPTSSMTSNSSSASNANTTSSSGINPRNRASGTPSNERARPASGISSFLNTFGIRQNSQTASSSAAPDQRLFGTTPSNSHMSVAMESIDTAPQQQEPRLHHPIQMPLSAQFHVHRNYQLPISISLTAPTTTDHQQSSAHNFEGNNVGNVQESLNQRQPNGTNNTTTSIISMAPAATTRNIVGGADGSTIVNNSQEMYKNLRHLIYAANQPNGTEILHLDLPATSAEESNNMFNVDEVTLKQRKDKHGLFSIRLTPFIDSSSTTNQGLFFEPIIRKAGPGSQLVIGRYTERVRDAISKIPEQYHPVVFKSKVVSRTHGCFKVDSQGNWYIKDVKSSSGTFLNHQRLSPASSLSKDTPLRDGDILQLGMDFRGGTEEIYRCVRMRIELNRSWKLKANSFNKEALQRLQNLQKLTTGIEEEDCSICLCKIKPCQAIFISPCAHSWHFRCVRRLVMLSYPQFVCPNCRSSCDLEASFESSDEEDESDVESEGDQLVDQLSVLMETSKDVDSHP