sujigwak/NVAR huggingface dataset:
UniProt ID: Q7CQD4
Variant: Q -> H at position 125-125
Variant annotation: in strain: F98
Protein function: Activator for CDC42 by directly engaging this Rho GTPase and acting as potent guanine nucleotide exchange factor (GEF). This activation results in actin cytoskeleton rearrangements and stimulates membrane ruffling, promoting bacterial entry into non-phagocytic cells. Also activates NF-kB, p38 and ERK kinases, which are known to be involved in the induction of IL-8 expression. Chaperone InvB is required for secretion, translocation and stabilization of intracellular levels of sopE2.
Reference sequence:
MTNITLSTQHYRIHRSDVEPVKEKTTEKDIFAKSITAVRNSFISLSTSLSDRFSLHQQTDIPTTHFHRGNASEGRAVLTSKTVKDFMLQKLNSLDIKGNASKDPAYARQTCEAILSAVYSNNKDQCCKLLISKGVSITPFLKEIGEAAQNAGLPGEIKNGVFTPGGAGANPFVVPLIASASIKYPHMFINHNQQVSFKAYAEKIVMKEVTPLFNKGTMPTPQQFQLTIENIANKYLQNAS
UniProt ID: Q7H6I5
Variant: L -> P at position 260-260
Variant annotation: in strain: Isolate PI578675
Protein function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.
Reference sequence:
MVREEVAGSTQTLQWKCVESRVDSKRLYYGRFILSPLRKGQADTVGIALRRALLGEIEGTCITRAKFGSVPHEYSTIAGIEESVQEILLNLKEIVLRSNLYGVRDASICVKGPRYITAQDIILPPSVEIVDTAQPIANLTEPIDFCIDLQIKRDRGYQTELRKNYQDGSYPIDAVSMPVRNVNYSIFSCGNGNEKHEILFLEIWTNGSLTPKEALYEASRNLIDLFLPFLHAEEEGTSFEENKNRFTPPLFTFQKRLTNLKKNKKGIPLNCIFIDQLELTSRTYNCLKRANIHTLLDLLSKTEEDLLRIDSFRMEDRKHIWDTLEKHLPIDLLKNKLSF
UniProt ID: Q7K4M4
Variant: G -> E at position 90-90
Variant annotation: in strain: NC732 and NC390
Protein function: Specifically required in males for proper segregation of autosomal bivalents at meiosis I. Expression is required in the male germ line prior to spermatocyte stage S4. May have a role as a bridging molecule maintaining adhesion to hold autosome bivalents together via heterochromatic connections.
Reference sequence:
MSKFLDMLSGSQCVSLEKCGDVVVSTNDCMIALYCHFCRDLFTQLPEFLRHLQSNHSDVLHFTKEHNVYSVEELLSGEQGKAHEDAQSAGHNSSSGDSSSLMNSEDSRAIEGSEDNSDNSPMKPEQIGKQSEINLLAEVTNILLQTNDKELKPENGVFNRPRKKANNESSSLKICDLKSHTIARTSRKRMSMVKNRILRVLDSDLSAKLEIKPPEPNSKLSITEPIQEDNIPGTCFDTPTKPIPSSSQLSVRKSSLTEANQICTKYAEKKTAPTMPKLLNCVPKPILTSQQAHTNAEISEINETYHLAASQVTKTTKTFPVKITQIDILQPVKLPKTLITPINEEGVSDQVENSTNNINNAQSLPKENTKKFFKKRSELGIKAQGSPNKFFKIIKSKANPIIVKRVQTTSAKASTNKIQIRSNDKTNCFASEFNSTKIRKLKMENCVDLKSEDPCANTNTRLNKLATISSCEILKAVGLPAITDNPIEDTLLPDELETIRKKADQFIKIYRKYDSIWNYRKICPPAKPDFISQQIFALTREVNKTMLCNLANSDIKGIINQISVWHYNIYTQYIDLDTISENARYTLKLFSFLPVSFAYFCKCCDDIFILKKEYLKHLISHQVRFQCTKCIKVFKYKGYYEKHLRNAHS
UniProt ID: Q7K4M4
Variant: D -> Y at position 97-97
Variant annotation: in strain: MW6
Protein function: Specifically required in males for proper segregation of autosomal bivalents at meiosis I. Expression is required in the male germ line prior to spermatocyte stage S4. May have a role as a bridging molecule maintaining adhesion to hold autosome bivalents together via heterochromatic connections.
Reference sequence:
MSKFLDMLSGSQCVSLEKCGDVVVSTNDCMIALYCHFCRDLFTQLPEFLRHLQSNHSDVLHFTKEHNVYSVEELLSGEQGKAHEDAQSAGHNSSSGDSSSLMNSEDSRAIEGSEDNSDNSPMKPEQIGKQSEINLLAEVTNILLQTNDKELKPENGVFNRPRKKANNESSSLKICDLKSHTIARTSRKRMSMVKNRILRVLDSDLSAKLEIKPPEPNSKLSITEPIQEDNIPGTCFDTPTKPIPSSSQLSVRKSSLTEANQICTKYAEKKTAPTMPKLLNCVPKPILTSQQAHTNAEISEINETYHLAASQVTKTTKTFPVKITQIDILQPVKLPKTLITPINEEGVSDQVENSTNNINNAQSLPKENTKKFFKKRSELGIKAQGSPNKFFKIIKSKANPIIVKRVQTTSAKASTNKIQIRSNDKTNCFASEFNSTKIRKLKMENCVDLKSEDPCANTNTRLNKLATISSCEILKAVGLPAITDNPIEDTLLPDELETIRKKADQFIKIYRKYDSIWNYRKICPPAKPDFISQQIFALTREVNKTMLCNLANSDIKGIINQISVWHYNIYTQYIDLDTISENARYTLKLFSFLPVSFAYFCKCCDDIFILKKEYLKHLISHQVRFQCTKCIKVFKYKGYYEKHLRNAHS
UniProt ID: Q7K4M4
Variant: M -> I at position 122-122
Variant annotation: in strain: MW11, MW27, NC301 and NC397
Protein function: Specifically required in males for proper segregation of autosomal bivalents at meiosis I. Expression is required in the male germ line prior to spermatocyte stage S4. May have a role as a bridging molecule maintaining adhesion to hold autosome bivalents together via heterochromatic connections.
Reference sequence:
MSKFLDMLSGSQCVSLEKCGDVVVSTNDCMIALYCHFCRDLFTQLPEFLRHLQSNHSDVLHFTKEHNVYSVEELLSGEQGKAHEDAQSAGHNSSSGDSSSLMNSEDSRAIEGSEDNSDNSPMKPEQIGKQSEINLLAEVTNILLQTNDKELKPENGVFNRPRKKANNESSSLKICDLKSHTIARTSRKRMSMVKNRILRVLDSDLSAKLEIKPPEPNSKLSITEPIQEDNIPGTCFDTPTKPIPSSSQLSVRKSSLTEANQICTKYAEKKTAPTMPKLLNCVPKPILTSQQAHTNAEISEINETYHLAASQVTKTTKTFPVKITQIDILQPVKLPKTLITPINEEGVSDQVENSTNNINNAQSLPKENTKKFFKKRSELGIKAQGSPNKFFKIIKSKANPIIVKRVQTTSAKASTNKIQIRSNDKTNCFASEFNSTKIRKLKMENCVDLKSEDPCANTNTRLNKLATISSCEILKAVGLPAITDNPIEDTLLPDELETIRKKADQFIKIYRKYDSIWNYRKICPPAKPDFISQQIFALTREVNKTMLCNLANSDIKGIINQISVWHYNIYTQYIDLDTISENARYTLKLFSFLPVSFAYFCKCCDDIFILKKEYLKHLISHQVRFQCTKCIKVFKYKGYYEKHLRNAHS
UniProt ID: Q7K4M4
Variant: S -> N at position 131-131
Variant annotation: in strain: MW11
Protein function: Specifically required in males for proper segregation of autosomal bivalents at meiosis I. Expression is required in the male germ line prior to spermatocyte stage S4. May have a role as a bridging molecule maintaining adhesion to hold autosome bivalents together via heterochromatic connections.
Reference sequence:
MSKFLDMLSGSQCVSLEKCGDVVVSTNDCMIALYCHFCRDLFTQLPEFLRHLQSNHSDVLHFTKEHNVYSVEELLSGEQGKAHEDAQSAGHNSSSGDSSSLMNSEDSRAIEGSEDNSDNSPMKPEQIGKQSEINLLAEVTNILLQTNDKELKPENGVFNRPRKKANNESSSLKICDLKSHTIARTSRKRMSMVKNRILRVLDSDLSAKLEIKPPEPNSKLSITEPIQEDNIPGTCFDTPTKPIPSSSQLSVRKSSLTEANQICTKYAEKKTAPTMPKLLNCVPKPILTSQQAHTNAEISEINETYHLAASQVTKTTKTFPVKITQIDILQPVKLPKTLITPINEEGVSDQVENSTNNINNAQSLPKENTKKFFKKRSELGIKAQGSPNKFFKIIKSKANPIIVKRVQTTSAKASTNKIQIRSNDKTNCFASEFNSTKIRKLKMENCVDLKSEDPCANTNTRLNKLATISSCEILKAVGLPAITDNPIEDTLLPDELETIRKKADQFIKIYRKYDSIWNYRKICPPAKPDFISQQIFALTREVNKTMLCNLANSDIKGIINQISVWHYNIYTQYIDLDTISENARYTLKLFSFLPVSFAYFCKCCDDIFILKKEYLKHLISHQVRFQCTKCIKVFKYKGYYEKHLRNAHS
UniProt ID: Q7K4M4
Variant: N -> S at position 155-155
Variant annotation: in strain: MW11
Protein function: Specifically required in males for proper segregation of autosomal bivalents at meiosis I. Expression is required in the male germ line prior to spermatocyte stage S4. May have a role as a bridging molecule maintaining adhesion to hold autosome bivalents together via heterochromatic connections.
Reference sequence:
MSKFLDMLSGSQCVSLEKCGDVVVSTNDCMIALYCHFCRDLFTQLPEFLRHLQSNHSDVLHFTKEHNVYSVEELLSGEQGKAHEDAQSAGHNSSSGDSSSLMNSEDSRAIEGSEDNSDNSPMKPEQIGKQSEINLLAEVTNILLQTNDKELKPENGVFNRPRKKANNESSSLKICDLKSHTIARTSRKRMSMVKNRILRVLDSDLSAKLEIKPPEPNSKLSITEPIQEDNIPGTCFDTPTKPIPSSSQLSVRKSSLTEANQICTKYAEKKTAPTMPKLLNCVPKPILTSQQAHTNAEISEINETYHLAASQVTKTTKTFPVKITQIDILQPVKLPKTLITPINEEGVSDQVENSTNNINNAQSLPKENTKKFFKKRSELGIKAQGSPNKFFKIIKSKANPIIVKRVQTTSAKASTNKIQIRSNDKTNCFASEFNSTKIRKLKMENCVDLKSEDPCANTNTRLNKLATISSCEILKAVGLPAITDNPIEDTLLPDELETIRKKADQFIKIYRKYDSIWNYRKICPPAKPDFISQQIFALTREVNKTMLCNLANSDIKGIINQISVWHYNIYTQYIDLDTISENARYTLKLFSFLPVSFAYFCKCCDDIFILKKEYLKHLISHQVRFQCTKCIKVFKYKGYYEKHLRNAHS
UniProt ID: Q7K4M4
Variant: R -> C at position 162-162
Variant annotation: in strain: MW25, MW38, MW56, MW63, MW9, NC304, NC357 and NC361
Protein function: Specifically required in males for proper segregation of autosomal bivalents at meiosis I. Expression is required in the male germ line prior to spermatocyte stage S4. May have a role as a bridging molecule maintaining adhesion to hold autosome bivalents together via heterochromatic connections.
Reference sequence:
MSKFLDMLSGSQCVSLEKCGDVVVSTNDCMIALYCHFCRDLFTQLPEFLRHLQSNHSDVLHFTKEHNVYSVEELLSGEQGKAHEDAQSAGHNSSSGDSSSLMNSEDSRAIEGSEDNSDNSPMKPEQIGKQSEINLLAEVTNILLQTNDKELKPENGVFNRPRKKANNESSSLKICDLKSHTIARTSRKRMSMVKNRILRVLDSDLSAKLEIKPPEPNSKLSITEPIQEDNIPGTCFDTPTKPIPSSSQLSVRKSSLTEANQICTKYAEKKTAPTMPKLLNCVPKPILTSQQAHTNAEISEINETYHLAASQVTKTTKTFPVKITQIDILQPVKLPKTLITPINEEGVSDQVENSTNNINNAQSLPKENTKKFFKKRSELGIKAQGSPNKFFKIIKSKANPIIVKRVQTTSAKASTNKIQIRSNDKTNCFASEFNSTKIRKLKMENCVDLKSEDPCANTNTRLNKLATISSCEILKAVGLPAITDNPIEDTLLPDELETIRKKADQFIKIYRKYDSIWNYRKICPPAKPDFISQQIFALTREVNKTMLCNLANSDIKGIINQISVWHYNIYTQYIDLDTISENARYTLKLFSFLPVSFAYFCKCCDDIFILKKEYLKHLISHQVRFQCTKCIKVFKYKGYYEKHLRNAHS
UniProt ID: Q7K4M4
Variant: I -> M at position 211-211
Variant annotation: in strain: MW6, MW9, MW11, MW25, MW27, MW38, MW56, MW63, NC301, NC304, NC357, NC361, NC390, NC397 and NC732
Protein function: Specifically required in males for proper segregation of autosomal bivalents at meiosis I. Expression is required in the male germ line prior to spermatocyte stage S4. May have a role as a bridging molecule maintaining adhesion to hold autosome bivalents together via heterochromatic connections.
Reference sequence:
MSKFLDMLSGSQCVSLEKCGDVVVSTNDCMIALYCHFCRDLFTQLPEFLRHLQSNHSDVLHFTKEHNVYSVEELLSGEQGKAHEDAQSAGHNSSSGDSSSLMNSEDSRAIEGSEDNSDNSPMKPEQIGKQSEINLLAEVTNILLQTNDKELKPENGVFNRPRKKANNESSSLKICDLKSHTIARTSRKRMSMVKNRILRVLDSDLSAKLEIKPPEPNSKLSITEPIQEDNIPGTCFDTPTKPIPSSSQLSVRKSSLTEANQICTKYAEKKTAPTMPKLLNCVPKPILTSQQAHTNAEISEINETYHLAASQVTKTTKTFPVKITQIDILQPVKLPKTLITPINEEGVSDQVENSTNNINNAQSLPKENTKKFFKKRSELGIKAQGSPNKFFKIIKSKANPIIVKRVQTTSAKASTNKIQIRSNDKTNCFASEFNSTKIRKLKMENCVDLKSEDPCANTNTRLNKLATISSCEILKAVGLPAITDNPIEDTLLPDELETIRKKADQFIKIYRKYDSIWNYRKICPPAKPDFISQQIFALTREVNKTMLCNLANSDIKGIINQISVWHYNIYTQYIDLDTISENARYTLKLFSFLPVSFAYFCKCCDDIFILKKEYLKHLISHQVRFQCTKCIKVFKYKGYYEKHLRNAHS
UniProt ID: Q7K4M4
Variant: T -> S at position 240-240
Variant annotation: in strain: MW11
Protein function: Specifically required in males for proper segregation of autosomal bivalents at meiosis I. Expression is required in the male germ line prior to spermatocyte stage S4. May have a role as a bridging molecule maintaining adhesion to hold autosome bivalents together via heterochromatic connections.
Reference sequence:
MSKFLDMLSGSQCVSLEKCGDVVVSTNDCMIALYCHFCRDLFTQLPEFLRHLQSNHSDVLHFTKEHNVYSVEELLSGEQGKAHEDAQSAGHNSSSGDSSSLMNSEDSRAIEGSEDNSDNSPMKPEQIGKQSEINLLAEVTNILLQTNDKELKPENGVFNRPRKKANNESSSLKICDLKSHTIARTSRKRMSMVKNRILRVLDSDLSAKLEIKPPEPNSKLSITEPIQEDNIPGTCFDTPTKPIPSSSQLSVRKSSLTEANQICTKYAEKKTAPTMPKLLNCVPKPILTSQQAHTNAEISEINETYHLAASQVTKTTKTFPVKITQIDILQPVKLPKTLITPINEEGVSDQVENSTNNINNAQSLPKENTKKFFKKRSELGIKAQGSPNKFFKIIKSKANPIIVKRVQTTSAKASTNKIQIRSNDKTNCFASEFNSTKIRKLKMENCVDLKSEDPCANTNTRLNKLATISSCEILKAVGLPAITDNPIEDTLLPDELETIRKKADQFIKIYRKYDSIWNYRKICPPAKPDFISQQIFALTREVNKTMLCNLANSDIKGIINQISVWHYNIYTQYIDLDTISENARYTLKLFSFLPVSFAYFCKCCDDIFILKKEYLKHLISHQVRFQCTKCIKVFKYKGYYEKHLRNAHS
UniProt ID: Q7K4M4
Variant: A -> S at position 292-292
Variant annotation: in strain: NC357
Protein function: Specifically required in males for proper segregation of autosomal bivalents at meiosis I. Expression is required in the male germ line prior to spermatocyte stage S4. May have a role as a bridging molecule maintaining adhesion to hold autosome bivalents together via heterochromatic connections.
Reference sequence:
MSKFLDMLSGSQCVSLEKCGDVVVSTNDCMIALYCHFCRDLFTQLPEFLRHLQSNHSDVLHFTKEHNVYSVEELLSGEQGKAHEDAQSAGHNSSSGDSSSLMNSEDSRAIEGSEDNSDNSPMKPEQIGKQSEINLLAEVTNILLQTNDKELKPENGVFNRPRKKANNESSSLKICDLKSHTIARTSRKRMSMVKNRILRVLDSDLSAKLEIKPPEPNSKLSITEPIQEDNIPGTCFDTPTKPIPSSSQLSVRKSSLTEANQICTKYAEKKTAPTMPKLLNCVPKPILTSQQAHTNAEISEINETYHLAASQVTKTTKTFPVKITQIDILQPVKLPKTLITPINEEGVSDQVENSTNNINNAQSLPKENTKKFFKKRSELGIKAQGSPNKFFKIIKSKANPIIVKRVQTTSAKASTNKIQIRSNDKTNCFASEFNSTKIRKLKMENCVDLKSEDPCANTNTRLNKLATISSCEILKAVGLPAITDNPIEDTLLPDELETIRKKADQFIKIYRKYDSIWNYRKICPPAKPDFISQQIFALTREVNKTMLCNLANSDIKGIINQISVWHYNIYTQYIDLDTISENARYTLKLFSFLPVSFAYFCKCCDDIFILKKEYLKHLISHQVRFQCTKCIKVFKYKGYYEKHLRNAHS
UniProt ID: Q7K4M4
Variant: G -> D at position 346-346
Variant annotation: in strain: NC397
Protein function: Specifically required in males for proper segregation of autosomal bivalents at meiosis I. Expression is required in the male germ line prior to spermatocyte stage S4. May have a role as a bridging molecule maintaining adhesion to hold autosome bivalents together via heterochromatic connections.
Reference sequence:
MSKFLDMLSGSQCVSLEKCGDVVVSTNDCMIALYCHFCRDLFTQLPEFLRHLQSNHSDVLHFTKEHNVYSVEELLSGEQGKAHEDAQSAGHNSSSGDSSSLMNSEDSRAIEGSEDNSDNSPMKPEQIGKQSEINLLAEVTNILLQTNDKELKPENGVFNRPRKKANNESSSLKICDLKSHTIARTSRKRMSMVKNRILRVLDSDLSAKLEIKPPEPNSKLSITEPIQEDNIPGTCFDTPTKPIPSSSQLSVRKSSLTEANQICTKYAEKKTAPTMPKLLNCVPKPILTSQQAHTNAEISEINETYHLAASQVTKTTKTFPVKITQIDILQPVKLPKTLITPINEEGVSDQVENSTNNINNAQSLPKENTKKFFKKRSELGIKAQGSPNKFFKIIKSKANPIIVKRVQTTSAKASTNKIQIRSNDKTNCFASEFNSTKIRKLKMENCVDLKSEDPCANTNTRLNKLATISSCEILKAVGLPAITDNPIEDTLLPDELETIRKKADQFIKIYRKYDSIWNYRKICPPAKPDFISQQIFALTREVNKTMLCNLANSDIKGIINQISVWHYNIYTQYIDLDTISENARYTLKLFSFLPVSFAYFCKCCDDIFILKKEYLKHLISHQVRFQCTKCIKVFKYKGYYEKHLRNAHS
UniProt ID: Q7K4M4
Variant: D -> N at position 349-349
Variant annotation: in strain: NC335
Protein function: Specifically required in males for proper segregation of autosomal bivalents at meiosis I. Expression is required in the male germ line prior to spermatocyte stage S4. May have a role as a bridging molecule maintaining adhesion to hold autosome bivalents together via heterochromatic connections.
Reference sequence:
MSKFLDMLSGSQCVSLEKCGDVVVSTNDCMIALYCHFCRDLFTQLPEFLRHLQSNHSDVLHFTKEHNVYSVEELLSGEQGKAHEDAQSAGHNSSSGDSSSLMNSEDSRAIEGSEDNSDNSPMKPEQIGKQSEINLLAEVTNILLQTNDKELKPENGVFNRPRKKANNESSSLKICDLKSHTIARTSRKRMSMVKNRILRVLDSDLSAKLEIKPPEPNSKLSITEPIQEDNIPGTCFDTPTKPIPSSSQLSVRKSSLTEANQICTKYAEKKTAPTMPKLLNCVPKPILTSQQAHTNAEISEINETYHLAASQVTKTTKTFPVKITQIDILQPVKLPKTLITPINEEGVSDQVENSTNNINNAQSLPKENTKKFFKKRSELGIKAQGSPNKFFKIIKSKANPIIVKRVQTTSAKASTNKIQIRSNDKTNCFASEFNSTKIRKLKMENCVDLKSEDPCANTNTRLNKLATISSCEILKAVGLPAITDNPIEDTLLPDELETIRKKADQFIKIYRKYDSIWNYRKICPPAKPDFISQQIFALTREVNKTMLCNLANSDIKGIINQISVWHYNIYTQYIDLDTISENARYTLKLFSFLPVSFAYFCKCCDDIFILKKEYLKHLISHQVRFQCTKCIKVFKYKGYYEKHLRNAHS
UniProt ID: Q7K4M4
Variant: A -> T at position 383-383
Variant annotation: in strain: MW6, MW27, NC301, NC304 and NC397
Protein function: Specifically required in males for proper segregation of autosomal bivalents at meiosis I. Expression is required in the male germ line prior to spermatocyte stage S4. May have a role as a bridging molecule maintaining adhesion to hold autosome bivalents together via heterochromatic connections.
Reference sequence:
MSKFLDMLSGSQCVSLEKCGDVVVSTNDCMIALYCHFCRDLFTQLPEFLRHLQSNHSDVLHFTKEHNVYSVEELLSGEQGKAHEDAQSAGHNSSSGDSSSLMNSEDSRAIEGSEDNSDNSPMKPEQIGKQSEINLLAEVTNILLQTNDKELKPENGVFNRPRKKANNESSSLKICDLKSHTIARTSRKRMSMVKNRILRVLDSDLSAKLEIKPPEPNSKLSITEPIQEDNIPGTCFDTPTKPIPSSSQLSVRKSSLTEANQICTKYAEKKTAPTMPKLLNCVPKPILTSQQAHTNAEISEINETYHLAASQVTKTTKTFPVKITQIDILQPVKLPKTLITPINEEGVSDQVENSTNNINNAQSLPKENTKKFFKKRSELGIKAQGSPNKFFKIIKSKANPIIVKRVQTTSAKASTNKIQIRSNDKTNCFASEFNSTKIRKLKMENCVDLKSEDPCANTNTRLNKLATISSCEILKAVGLPAITDNPIEDTLLPDELETIRKKADQFIKIYRKYDSIWNYRKICPPAKPDFISQQIFALTREVNKTMLCNLANSDIKGIINQISVWHYNIYTQYIDLDTISENARYTLKLFSFLPVSFAYFCKCCDDIFILKKEYLKHLISHQVRFQCTKCIKVFKYKGYYEKHLRNAHS
UniProt ID: Q7KVY7
Variant: T -> S at position 67-67
Variant annotation: in strain: AF1, AF2, AF3, AF4, K11, K14, K16, K2, K21, K3, K5, K7, ZH1, ZH13, ZH16, ZH19, ZH2, ZH20, ZH21, ZH23, ZH25, ZH29, ZH31 and ZH33
Protein function: Potentially involved in docking of synaptic vesicles at presynaptic active zones.
Reference sequence:
MGKDRLPELLQRSLSTNSSNSSSNGSLLLNVYSGTTEFIIGNTGGNNNSYSVVSQNSHSCSNNNSSTEPKDRSSSKMTQYGSNVDDILNPYTEIRQQLAQIAANLETMNRMAQTVNLRTFNENEMDELHNKNLRLGNQLMTRFNDFKANLPAENDYSLEARMKRTLFYGLHQTFINLWHKNELFLQNYETKVKKNLRLHTKIINSEASEQEIELLIENKTTKLFVDNFLQETEKERQTLREMMDRFNELRRLEKSIEEVHALFMRIQTLVMEQSEVIQRVEFHAQQATLHVDKGADELDQAEQHQKKARKKKIMLIVILAAVLLVLLLVGIYL
UniProt ID: Q7KVY7
Variant: D -> V at position 71-71
Variant annotation: in strain: ZH20
Protein function: Potentially involved in docking of synaptic vesicles at presynaptic active zones.
Reference sequence:
MGKDRLPELLQRSLSTNSSNSSSNGSLLLNVYSGTTEFIIGNTGGNNNSYSVVSQNSHSCSNNNSSTEPKDRSSSKMTQYGSNVDDILNPYTEIRQQLAQIAANLETMNRMAQTVNLRTFNENEMDELHNKNLRLGNQLMTRFNDFKANLPAENDYSLEARMKRTLFYGLHQTFINLWHKNELFLQNYETKVKKNLRLHTKIINSEASEQEIELLIENKTTKLFVDNFLQETEKERQTLREMMDRFNELRRLEKSIEEVHALFMRIQTLVMEQSEVIQRVEFHAQQATLHVDKGADELDQAEQHQKKARKKKIMLIVILAAVLLVLLLVGIYL
UniProt ID: Q7KVY7
Variant: Q -> L at position 97-97
Variant annotation: in strain: wi3
Protein function: Potentially involved in docking of synaptic vesicles at presynaptic active zones.
Reference sequence:
MGKDRLPELLQRSLSTNSSNSSSNGSLLLNVYSGTTEFIIGNTGGNNNSYSVVSQNSHSCSNNNSSTEPKDRSSSKMTQYGSNVDDILNPYTEIRQQLAQIAANLETMNRMAQTVNLRTFNENEMDELHNKNLRLGNQLMTRFNDFKANLPAENDYSLEARMKRTLFYGLHQTFINLWHKNELFLQNYETKVKKNLRLHTKIINSEASEQEIELLIENKTTKLFVDNFLQETEKERQTLREMMDRFNELRRLEKSIEEVHALFMRIQTLVMEQSEVIQRVEFHAQQATLHVDKGADELDQAEQHQKKARKKKIMLIVILAAVLLVLLLVGIYL
UniProt ID: Q7KVY7
Variant: T -> A at position 107-107
Variant annotation: in strain: AF1, AF2, AF3, AF4, K11, K14, K16, K2, K21, K3, K5, K7, ZH1, ZH13, ZH16, ZH19, ZH2, ZH20, ZH21, ZH23, ZH25, ZH29, ZH31 and ZH33
Protein function: Potentially involved in docking of synaptic vesicles at presynaptic active zones.
Reference sequence:
MGKDRLPELLQRSLSTNSSNSSSNGSLLLNVYSGTTEFIIGNTGGNNNSYSVVSQNSHSCSNNNSSTEPKDRSSSKMTQYGSNVDDILNPYTEIRQQLAQIAANLETMNRMAQTVNLRTFNENEMDELHNKNLRLGNQLMTRFNDFKANLPAENDYSLEARMKRTLFYGLHQTFINLWHKNELFLQNYETKVKKNLRLHTKIINSEASEQEIELLIENKTTKLFVDNFLQETEKERQTLREMMDRFNELRRLEKSIEEVHALFMRIQTLVMEQSEVIQRVEFHAQQATLHVDKGADELDQAEQHQKKARKKKIMLIVILAAVLLVLLLVGIYL
UniProt ID: Q7KZN9
Variant: R -> W at position 217-217
Variant annotation: in MC4DN6; dbSNP:rs28939711
Protein function: May be involved in the biosynthesis of heme A.
Reference sequence:
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTVAGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVGLVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWTSLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPTMVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALWLMNELRRVPK
UniProt ID: Q7KZN9
Variant: S -> P at position 344-344
Variant annotation: in MC4DN6; dbSNP:rs397514662
Protein function: May be involved in the biosynthesis of heme A.
Reference sequence:
MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTVAGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVGLVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWTSLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPTMVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALWLMNELRRVPK
UniProt ID: Q7L014
Variant: E -> Q at position 207-207
Variant annotation: in dbSNP:rs10447293
Protein function: Plays an essential role in splicing, either prior to, or during splicing A complex formation.
Reference sequence:
MGRESRHYRKRSASRGRSGSRSRSRSPSDKRSKRGDDRRSRSRDRDRRRERSRSRDKRRSRSRDRKRLRRSRSRERDRSRERRRSRSRDRRRSRSRSRGRRSRSSSPGNKSKKTENRSRSKEKTDGGESSKEKKKDKDDKEDEKEKDAGNFDQNKLEEEMRKRKERVEKWREEQRKKAMENIGELKKEIEEMKQGKKWSLEDDDDDEDDPAEAEKEGNEMEGEELDPLDAYMEEVKEEVKKFNMRSVKGGGGNEKKSGPTVTKVVTVVTTKKAVVDSDKKKGELMENDQDAMEYSSEEEEVDLQTALTGYQTKQRKLLEPVDHGKIEYEPFRKNFYVEVPELAKMSQEEVNVFRLEMEGITVKGKGCPKPIKSWVQCGISMKILNSLKKHGYEKPTPIQTQAIPAIMSGRDLIGIAKTGSGKTIAFLLPMFRHIMDQRSLEEGEGPIAVIMTPTRELALQITKECKKFSKTLGLRVVCVYGGTGISEQIAELKRGAEIIVCTPGRMIDMLAANSGRVTNLRRVTYVVLDEADRMFDMGFEPQVMRIVDNVRPDRQTVMFSATFPRAMEALARRILSKPIEVQVGGRSVVCSDVEQQVIVIEEEKKFLKLLELLGHYQESGSVIIFVDKQEHADGLLKDLMRASYPCMSLHGGIDQYDRDSIINDFKNGTCKLLVATSVAARGLDVKHLILVVNYSCPNHYEDYVHRAGRTGRAGNKGYAYTFITEDQARYAGDIIKALELSGTAVPPDLEKLWSDFKDQQKAEGKIIKKSSGFSGKGFKFDETEQALANERKKLQKAALGLQDSDDEDAAVDIDEQIESMFNSKKRVKDMAAPGTSSVPAPTAGNAEKLEIAKRLALRINAQKNLGIESQDVMQQATNAILRGGTILAPTVSAKTIAEQLAEKINAKLNYVPLEKQEEERQDGGQNESFKRYEEELEINDFPQTARWKVTSKEALQRISEYSEAAITIRGTYFPPGKEPKEGERKIYLAIESANELAVQKAKAEITRLIKEELIRLQNSYQPTNKGRYKVL
UniProt ID: Q7L0Q8
Variant: T -> A at position 121-121
Variant annotation: in dbSNP:rs3820264
Protein function: Acts upstream of PAK1 to regulate the actin cytoskeleton, adhesion turnover and increase cell migration. Stimulates quiescent cells to reenter the cell cycle. Has no detectable GTPase activity but its high intrinsic guanine nucleotide exchange activity suggests it is constitutively GTP-bound. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.
Reference sequence:
MPPQQGDPAFPDRCEAPPVPPRRERGGRGGRGPGEPGGRGRAGGAEGRGVKCVLVGDGAVGKTSLVVSYTTNGYPTEYIPTAFDNFSAVVSVDGRPVRLQLCDTAGQDEFDKLRPLCYTNTDIFLLCFSVVSPSSFQNVSEKWVPEIRCHCPKAPIILVGTQSDLREDVKVLIELDKCKEKPVPEEAAKLCAEEIKAASYIECSALTQKNLKEVFDAAIVAGIQYSDTQQQPKKSKSRTPDKMKNLSKSWWKKYCCFV
UniProt ID: Q7L0Y3
Variant: P -> R at position 56-56
Variant annotation: in dbSNP:rs3762735
Protein function: Mitochondrial tRNA N(1)-methyltransferase involved in mitochondrial tRNA maturation . Component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP/MRPP3, which cleaves tRNA molecules in their 5'-ends . Together with HSD17B10/MRPP2, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity . The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; TRMT10C/MRPP1 acting as the catalytic N(1)-methyltransferase subunit . The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5'-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3'-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme . In addition to tRNA N(1)-methyltransferase activity, TRMT10C/MRPP1 also acts as a mRNA N(1)-methyltransferase by mediating methylation of adenosine residues at the N(1) position of MT-ND5 mRNA . Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly.
Reference sequence:
MAAFLKMSVSVNFFRPFTRFLVPFTLHRKRNNLTILQRYMSSKIPAVTYPKNESTPPSEELELDKWKTTMKSSVQEECVSTISSSKDEDPLAATREFIEMWRLLGREVPEHITEEELKTLMECVSNTAKKKYLKYLYTKEKVKKARQIKKEMKAAAREEAKNIKLLETTEEDKQKNFLFLRLWDRNMDIAMGWKGAQAMQFGQPLVFDMAYENYMKRKELQNTVSQLLESEGWNRRNVDPFHIYFCNLKIDGALHRELVKRYQEKWDKLLLTSTEKSHVDLFPKDSIIYLTADSPNVMTTFRHDKVYVIGSFVDKSMQPGTSLAKAKRLNLATECLPLDKYLQWEIGNKNLTLDQMIRILLCLKNNGNWQEALQFVPKRKHTGFLEISQHSQEFINRLKKAKT
UniProt ID: Q7L0Y3
Variant: K -> N at position 164-164
Variant annotation: in dbSNP:rs16844031
Protein function: Mitochondrial tRNA N(1)-methyltransferase involved in mitochondrial tRNA maturation . Component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP/MRPP3, which cleaves tRNA molecules in their 5'-ends . Together with HSD17B10/MRPP2, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity . The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; TRMT10C/MRPP1 acting as the catalytic N(1)-methyltransferase subunit . The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5'-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3'-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme . In addition to tRNA N(1)-methyltransferase activity, TRMT10C/MRPP1 also acts as a mRNA N(1)-methyltransferase by mediating methylation of adenosine residues at the N(1) position of MT-ND5 mRNA . Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly.
Reference sequence:
MAAFLKMSVSVNFFRPFTRFLVPFTLHRKRNNLTILQRYMSSKIPAVTYPKNESTPPSEELELDKWKTTMKSSVQEECVSTISSSKDEDPLAATREFIEMWRLLGREVPEHITEEELKTLMECVSNTAKKKYLKYLYTKEKVKKARQIKKEMKAAAREEAKNIKLLETTEEDKQKNFLFLRLWDRNMDIAMGWKGAQAMQFGQPLVFDMAYENYMKRKELQNTVSQLLESEGWNRRNVDPFHIYFCNLKIDGALHRELVKRYQEKWDKLLLTSTEKSHVDLFPKDSIIYLTADSPNVMTTFRHDKVYVIGSFVDKSMQPGTSLAKAKRLNLATECLPLDKYLQWEIGNKNLTLDQMIRILLCLKNNGNWQEALQFVPKRKHTGFLEISQHSQEFINRLKKAKT