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Results for the Protein: Q03164
146345435

KMT2A_HUMAN RecName: Full=Histone-lysine N-methyltransferase 2A; Short=Lysine N-methyltransferase 2A; AltName: Full=ALL-1; AltName: Full=CXXC-type zinc finger protein 7; AltName: Full=Myeloid/lymphoid or mixed-lineage leukemia; AltName: Full=Myeloid/lymphoid or mixed-lineage leukemia protein 1; AltName: Full=Trithorax-like protein; AltName: Full=Zinc finger protein HRX; Contains: RecName: Full=MLL cleavage product N320; AltName: Full=N-terminal cleavage product of 320 kDa; Short=p320; Contains: RecName: Full=MLL cleavage product C180; AltName: Full=C-terminal cleavage product of 180 kDa; Short=p180
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Default View:

zf-CXXC - pfam02008
PHD - pfam00628
PHD - smart00249
BROMO - smart00297
Bromo_ALL-1 - cd05493
FYRN - pfam05964
FYRN - smart00541
COG2940 - COG2940
FYRC - pfam05965
FYRC - smart00542
SET - smart00317
SET - pfam00856
PostSET - smart00508


Swiss-Prot Protein: Q03164
Identical to: NP_005924
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Bromo_ALL-1cd054934.1e-6616471777
zf-CXXCpfam020081.1e-2211471194
PHDpfam006283.3e-0614331482
PHDpfam006286.9e-0714831533
PHDpfam006282.5e-1315681627
COG2940COG29406.1e-0935243969
SETpfam008566.2e-4038403945
PHDsmart002490.00114331479
PHDsmart002491.6e-1114811530
PHDsmart002498.4e-1015681624
BROMOsmart002974.1e-3816331765
PHDsmart002490.0001119321977
FYRNpfam059641.4e-2020232073
FYRNsmart005411.3e-2020302073
FYRCpfam059659.3e-3436663749
FYRCsmart005426.1e-3936683753
SETsmart003171.5e-4738303944
PostSETsmart005088.3e-0639533969

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_021317Polymorphismp.ALA30GLYN/A
Swiss-ProtVAR_021318Polymorphismp.ALA53VALN/A
Swiss-ProtVAR_021322Polymorphismp.GLN2387ARGN/A
Swiss-ProtVAR_052652Polymorphismp.GLN1975PRON/A
Swiss-ProtVAR_021319Polymorphismp.GLU502LYSN/A
Swiss-ProtVAR_021321Polymorphismp.PRO2354ARGN/A
Swiss-ProtVAR_021324Polymorphismp.SER3773ALAN/A
Swiss-ProtVAR_021320Polymorphismp.SER2319THRN/A
Swiss-ProtVAR_021323Polymorphismp.VAL3714ILEN/A



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