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P21359

- NF1_HUMAN

UniProt

P21359 - NF1_HUMAN

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Protein
Neurofibromin
Gene
NF1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.2 Publications

GO - Molecular functioni

  1. Ras GTPase activator activity Source: UniProtKB
  2. phosphatidylcholine binding Source: UniProtKB
  3. phosphatidylethanolamine binding Source: UniProtKB
  4. protein binding Source: IntAct
Complete GO annotation...

GO - Biological processi

  1. MAPK cascade Source: HGNC
  2. Ras protein signal transduction Source: HGNC
  3. Schwann cell development Source: HGNC
  4. actin cytoskeleton organization Source: HGNC
  5. adrenal gland development Source: HGNC
  6. artery morphogenesis Source: HGNC
  7. brain development Source: HGNC
  8. camera-type eye morphogenesis Source: HGNC
  9. cell communication Source: HGNC
  10. cerebral cortex development Source: HGNC
  11. cognition Source: HGNC
  12. collagen fibril organization Source: HGNC
  13. extracellular matrix organization Source: HGNC
  14. extrinsic apoptotic signaling pathway via death domain receptors Source: Ensembl
  15. forebrain astrocyte development Source: HGNC
  16. forebrain morphogenesis Source: HGNC
  17. heart development Source: HGNC
  18. liver development Source: HGNC
  19. metanephros development Source: HGNC
  20. myelination in peripheral nervous system Source: HGNC
  21. negative regulation of MAP kinase activity Source: HGNC
  22. negative regulation of MAPK cascade Source: HGNC
  23. negative regulation of Rac protein signal transduction Source: Ensembl
  24. negative regulation of Ras protein signal transduction Source: RefGenome
  25. negative regulation of angiogenesis Source: Ensembl
  26. negative regulation of astrocyte differentiation Source: Ensembl
  27. negative regulation of cell migration Source: MGI
  28. negative regulation of cell-matrix adhesion Source: Ensembl
  29. negative regulation of endothelial cell proliferation Source: HGNC
  30. negative regulation of fibroblast proliferation Source: UniProtKB
  31. negative regulation of neuroblast proliferation Source: HGNC
  32. negative regulation of neurotransmitter secretion Source: Ensembl
  33. negative regulation of oligodendrocyte differentiation Source: HGNC
  34. negative regulation of osteoclast differentiation Source: Ensembl
  35. negative regulation of protein kinase activity Source: HGNC
  36. negative regulation of transcription factor import into nucleus Source: HGNC
  37. neural tube development Source: Ensembl
  38. osteoblast differentiation Source: HGNC
  39. peripheral nervous system development Source: HGNC
  40. phosphatidylinositol 3-kinase signaling Source: HGNC
  41. pigmentation Source: HGNC
  42. positive regulation of Ras GTPase activity Source: UniProtKB
  43. positive regulation of adenylate cyclase activity Source: HGNC
  44. positive regulation of apoptotic process Source: HGNC
  45. positive regulation of endothelial cell proliferation Source: Ensembl
  46. positive regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: Ensembl
  47. positive regulation of extrinsic apoptotic signaling pathway via death domain receptors Source: Ensembl
  48. positive regulation of neuron apoptotic process Source: HGNC
  49. regulation of Ras GTPase activity Source: HGNC
  50. regulation of angiogenesis Source: HGNC
  51. regulation of blood vessel endothelial cell migration Source: HGNC
  52. regulation of bone resorption Source: HGNC
  53. regulation of cell-matrix adhesion Source: HGNC
  54. regulation of glial cell differentiation Source: HGNC
  55. regulation of long-term neuronal synaptic plasticity Source: Ensembl
  56. regulation of synaptic transmission, GABAergic Source: Ensembl
  57. response to hypoxia Source: HGNC
  58. skeletal muscle tissue development Source: Ensembl
  59. smooth muscle tissue development Source: HGNC
  60. spinal cord development Source: HGNC
  61. sympathetic nervous system development Source: HGNC
  62. visual learning Source: HGNC
  63. wound healing Source: HGNC
Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Keywords - Ligandi

Lipid-binding

Enzyme and pathway databases

SignaLinkiP21359.

Names & Taxonomyi

Protein namesi
Recommended name:
Neurofibromin
Alternative name(s):
Neurofibromatosis-related protein NF-1
Cleaved into the following chain:
Gene namesi
Name:NF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:7765. NF1.

Subcellular locationi

Nucleus. Nucleusnucleolus 1 Publication

GO - Cellular componenti

  1. axon Source: HGNC
  2. cytoplasm Source: HGNC
  3. dendrite Source: HGNC
  4. intrinsic component of the cytoplasmic side of the plasma membrane Source: RefGenome
  5. nucleus Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Neurofibromatosis 1 (NF1) [MIM:162200]: A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors.
Note: The disease is caused by mutations affecting the gene represented in this entry.30 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti31 – 311H → R in NF1. 1 Publication
Corresponds to variant rs199474725 [ dbSNP | Ensembl ].
VAR_032459
Natural varianti82 – 821S → F in NF1. 1 Publication
Corresponds to variant rs199474729 [ dbSNP | Ensembl ].
VAR_021730
Natural varianti93 – 931C → Y in NF1. 1 Publication
Corresponds to variant rs199474728 [ dbSNP | Ensembl ].
VAR_017551
Natural varianti117 – 1171I → S in NF1. 1 Publication
Corresponds to variant rs199474731 [ dbSNP | Ensembl ].
VAR_010989
Natural varianti145 – 1451L → P in NF1. 1 Publication
Corresponds to variant rs199474734 [ dbSNP | Ensembl ].
VAR_032460
Natural varianti157 – 1571I → N in NF1. 1 Publication
Corresponds to variant rs199474744 [ dbSNP | Ensembl ].
VAR_021731
Natural varianti160 – 1601R → T in NF1. 1 Publication
Corresponds to variant rs199474752 [ dbSNP | Ensembl ].
VAR_065888
Natural varianti186 – 1861D → V in NF1; reduced splicing enhancement. 1 Publication
VAR_032461
Natural varianti216 – 2161L → P in NF1. 1 Publication
Corresponds to variant rs199474756 [ dbSNP | Ensembl ].
VAR_021732
Natural varianti324 – 3241C → R in NF1. 1 Publication
Corresponds to variant rs199474735 [ dbSNP | Ensembl ].
VAR_032463
Natural varianti337 – 3371E → V in NF1. 1 Publication
Corresponds to variant rs199474736 [ dbSNP | Ensembl ].
VAR_032464
Natural varianti338 – 3381D → G in NF1. 1 Publication
Corresponds to variant rs199474773 [ dbSNP | Ensembl ].
VAR_010990
Natural varianti357 – 3571L → P in NF1. 1 Publication
Corresponds to variant rs137854563 [ dbSNP | Ensembl ].
VAR_021733
Natural varianti489 – 4891Y → C in NF1. 1 Publication
Corresponds to variant rs137854557 [ dbSNP | Ensembl ].
VAR_032465
Natural varianti491 – 4911Y → C in NF1. 1 Publication
Corresponds to variant rs199474757 [ dbSNP | Ensembl ].
VAR_021734
Natural varianti508 – 5081L → P in NF1. 1 Publication
Corresponds to variant rs137854558 [ dbSNP | Ensembl ].
VAR_010991
Natural varianti532 – 5321L → P in NF1. 1 Publication
Corresponds to variant rs199474737 [ dbSNP | Ensembl ].
VAR_032466
Natural varianti549 – 5491L → P in NF1. 1 Publication
Corresponds to variant rs199474758 [ dbSNP | Ensembl ].
VAR_021735
Natural varianti574 – 5741S → R in NF1. 1 Publication
VAR_032467
Natural varianti578 – 5781L → R in NF1. 1 Publication
Corresponds to variant rs199474774 [ dbSNP | Ensembl ].
VAR_021736
Natural varianti581 – 5811I → T in NF1. 1 Publication
Corresponds to variant rs199474759 [ dbSNP | Ensembl ].
VAR_021737
Natural varianti583 – 5831K → R in NF1. 1 Publication
Corresponds to variant rs199474760 [ dbSNP | Ensembl ].
VAR_021738
Natural varianti604 – 6041L → V in NF1. 1 Publication
Corresponds to variant rs142712751 [ dbSNP | Ensembl ].
VAR_017553
Natural varianti629 – 6291G → R in NF1; affects splicing by creating a novel splice acceptor site. 3 Publications
Corresponds to variant rs199474738 [ dbSNP | Ensembl ].
VAR_002653
Natural varianti665 – 6651S → F in NF1; unknown pathological significance. 2 Publications
Corresponds to variant rs145891889 [ dbSNP | Ensembl ].
VAR_021739
Natural varianti695 – 6951L → P in NF1. 1 Publication
Corresponds to variant rs199474761 [ dbSNP | Ensembl ].
VAR_021740
Natural varianti763 – 7631L → P in NF1. 1 Publication
Corresponds to variant rs199474762 [ dbSNP | Ensembl ].
VAR_021741
Natural varianti777 – 7771W → S in NF1. 2 Publications
Corresponds to variant rs199474745 [ dbSNP | Ensembl ].
VAR_021743
Natural varianti780 – 7801T → K in NF1. 4 Publications
Corresponds to variant rs199474746 [ dbSNP | Ensembl ].
VAR_021744
Natural varianti781 – 7811H → P in NF1. 1 Publication
Corresponds to variant rs199474763 [ dbSNP | Ensembl ].
VAR_021745
Natural varianti784 – 7841W → C in NF1. 1 Publication
Corresponds to variant rs199474778 [ dbSNP | Ensembl ].
VAR_021746
Natural varianti784 – 7841W → R in NF1. 2 Publications
Corresponds to variant rs199474730 [ dbSNP | Ensembl ].
VAR_021747
Natural varianti844 – 8441L → F in NF1. 2 Publications
Corresponds to variant rs199474785 [ dbSNP | Ensembl ].
VAR_010992
Natural varianti844 – 8441L → P in NF1. 1 Publication
Corresponds to variant rs137854566 [ dbSNP | Ensembl ].
VAR_032468
Natural varianti844 – 8441L → R in NF1; sporadic. 3 Publications
Corresponds to variant rs137854566 [ dbSNP | Ensembl ].
VAR_002654
Natural varianti847 – 8471L → P in NF1. 3 Publications
Corresponds to variant rs199474747 [ dbSNP | Ensembl ].
VAR_021748
Natural varianti848 – 8481G → E in NF1. 2 Publications
Corresponds to variant rs199474748 [ dbSNP | Ensembl ].
VAR_021749
Natural varianti898 – 8981L → P in NF1; sporadic. 2 Publications
Corresponds to variant rs199474786 [ dbSNP | Ensembl ].
VAR_002655
Natural varianti920 – 9201L → P in NF1; patient with cafe-au-lait spots; may be a distinct form of NF1. 1 Publication
Corresponds to variant rs199474775 [ dbSNP | Ensembl ].
VAR_021750
Natural varianti968 – 9681M → R in NF1. 2 Publications
Corresponds to variant rs199474749 [ dbSNP | Ensembl ].
VAR_021751
Natural varianti991 – 9911Missing in NF1. 2 Publications
VAR_002656
Natural varianti1035 – 10351M → R in NF1. 1 Publication
Corresponds to variant rs137854553 [ dbSNP | Ensembl ].
VAR_002657
Natural varianti1073 – 10731M → V in NF1. 1 Publication
Corresponds to variant rs199474740 [ dbSNP | Ensembl ].
VAR_032470
Natural varianti1147 – 11471L → P in NF1. 1 Publication
Corresponds to variant rs199474779 [ dbSNP | Ensembl ].
VAR_021752
Natural varianti1156 – 11561N → S in NF1. 1 Publication
Corresponds to variant rs199474764 [ dbSNP | Ensembl ].
VAR_021753
Natural varianti1166 – 11661G → D in NF1. 1 Publication
Corresponds to variant rs199474787 [ dbSNP | Ensembl ].
VAR_010993
Natural varianti1193 – 11931F → C in NF1. 1 Publication
Corresponds to variant rs199474780 [ dbSNP | Ensembl ].
VAR_021754
Natural varianti1196 – 11961L → R in NF1. 1 Publication
Corresponds to variant rs199474741 [ dbSNP | Ensembl ].
VAR_032471
Natural varianti1204 – 12041R → G in NF1. 1 Publication
Corresponds to variant rs199474732 [ dbSNP | Ensembl ].
VAR_021755
Natural varianti1204 – 12041R → W in NF1. 1 Publication
Corresponds to variant rs199474732 [ dbSNP | Ensembl ].
VAR_010994
Natural varianti1243 – 12431L → P in NF1; with neurofibromatous neuropathy. 1 Publication
Corresponds to variant rs137854564 [ dbSNP | Ensembl ].
VAR_032472
Natural varianti1250 – 12501R → P in NF1. 1 Publication
Corresponds to variant rs199474765 [ dbSNP | Ensembl ].
VAR_021756
Natural varianti1276 – 12761R → G in NF1. 1 Publication
Corresponds to variant rs199474742 [ dbSNP | Ensembl ].
VAR_032473
Natural varianti1276 – 12761R → P in NF1; complete loss of GAP activity. 2 Publications
Corresponds to variant rs137854556 [ dbSNP | Ensembl ].
VAR_010995
Natural varianti1276 – 12761R → Q in NF1 and mismatch repair deficient cancer cells. 3 Publications
Corresponds to variant rs137854556 [ dbSNP | Ensembl ].
VAR_017555
Natural varianti1412 – 14121R → S in NF1; significant reduction of GAP activity. 1 Publication
Corresponds to variant rs137854554 [ dbSNP | Ensembl ].
VAR_010996
Natural varianti1430 – 14301K → E in NF1. 1 Publication
VAR_032474
Natural varianti1440 – 14401K → Q in NF1. 1 Publication
Corresponds to variant rs199474790 [ dbSNP | Ensembl ].
VAR_010997
Natural varianti1440 – 14401K → R in NF1. 1 Publication
Corresponds to variant rs199474788 [ dbSNP | Ensembl ].
VAR_002658
Natural varianti1444 – 14441K → E in NF1 and NFNS; significant reduction of intrinsic GAP activity. 4 Publications
Corresponds to variant rs137854550 [ dbSNP | Ensembl ].
VAR_002659
Natural varianti1444 – 14441K → N in NF1. 2 Publications
Corresponds to variant rs199474750 [ dbSNP | Ensembl ].
VAR_021757
Natural varianti1444 – 14441K → R in NF1. 1 Publication
Corresponds to variant rs199474781 [ dbSNP | Ensembl ].
VAR_021758
Natural varianti1446 – 14461L → P in NF1. 3 Publications
Corresponds to variant rs199474733 [ dbSNP | Ensembl ].
VAR_008129
Natural varianti1489 – 14891S → G in NF1. 2 Publications
Corresponds to variant rs199474743 [ dbSNP | Ensembl ].
VAR_010998
Natural varianti1605 – 16051I → V in NF1; reduces protein stability. 2 Publications
Corresponds to variant rs199474766 [ dbSNP | Ensembl ].
VAR_021759
Natural varianti1611 – 16111R → W in NF1. 1 Publication
VAR_002660
Natural varianti1733 – 17331L → LGHEQQKLPAATLAL in NF1.
VAR_002661
Natural varianti1785 – 17851A → S in NF1. 1 Publication
Corresponds to variant rs199474782 [ dbSNP | Ensembl ].
VAR_021760
Natural varianti1952 – 19521W → R in NF1. 1 Publication
Corresponds to variant rs199474791 [ dbSNP | Ensembl ].
VAR_002662
Natural varianti1953 – 19531L → P in NF1. 1 Publication
Corresponds to variant rs199474792 [ dbSNP | Ensembl ].
VAR_002663
Natural varianti1953 – 19531Missing in NF1. 2 Publications
VAR_021761
Natural varianti2001 – 20011G → R in NF1. 2 Publications
Corresponds to variant rs199474751 [ dbSNP | Ensembl ].
VAR_021762
Natural varianti2012 – 20121D → N in NF1. 1 Publication
Corresponds to variant rs199474783 [ dbSNP | Ensembl ].
VAR_021763
Natural varianti2164 – 21641L → M in NF1. 1 Publication
Corresponds to variant rs137854551 [ dbSNP | Ensembl ].
VAR_002664
Natural varianti2192 – 21921Y → N in NF1. 1 Publication
VAR_002665
Natural varianti2221 – 22211P → A in NF1. 1 Publication
Corresponds to variant rs199474776 [ dbSNP | Ensembl ].
VAR_021764
Natural varianti2357 – 23571E → K in NF1. 1 Publication
Corresponds to variant rs199474784 [ dbSNP | Ensembl ].
VAR_021765
Natural varianti2387 – 23882Missing in NF1.
VAR_002666
Natural varianti2507 – 25071T → I in NF1. 1 Publication
Corresponds to variant rs149055633 [ dbSNP | Ensembl ].
VAR_021766
Natural varianti2631 – 26311T → A in NF1. 1 Publication
Corresponds to variant rs199474793 [ dbSNP | Ensembl ].
VAR_002667
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Watson syndrome (WS) [MIM:193520]: A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. It is considered as an atypical form of neurofibromatosis.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Familial spinal neurofibromatosis (FSNF) [MIM:162210]: Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2088 – 20881L → P in FSNF; null mutation; 50% reduction of protein level; no cafe-au-lait macules. 1 Publication
Corresponds to variant rs137854561 [ dbSNP | Ensembl ].
VAR_017669
Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]: Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti194 – 1941L → R in NFNS. 1 Publication
Corresponds to variant rs199474753 [ dbSNP | Ensembl ].
VAR_032462
Natural varianti1411 – 14111L → F in NFNS. 1 Publication
Corresponds to variant rs199474789 [ dbSNP | Ensembl ].
VAR_065236
Natural varianti1444 – 14441K → E in NF1 and NFNS; significant reduction of intrinsic GAP activity. 4 Publications
Corresponds to variant rs137854550 [ dbSNP | Ensembl ].
VAR_002659
Natural varianti1451 – 14511N → T in NFNS. 1 Publication
Corresponds to variant rs199474754 [ dbSNP | Ensembl ].
VAR_032475
Natural varianti1453 – 14531V → L in NFNS. 1 Publication
Corresponds to variant rs199474755 [ dbSNP | Ensembl ].
VAR_032476
Natural varianti1459 – 14591Missing in NFNS. 3 Publications
VAR_032477
Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
Note: The gene represented in this entry may be involved in disease pathogenesis.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi1691 – 16911K → A: Reduces phospholipid binding; when associated with A-1695; A-1769 and A-1771. 1 Publication
Mutagenesisi1695 – 16951R → A: Reduces phospholipid binding; when associated with A-1691; A-1769 and A-1771. 1 Publication
Mutagenesisi1769 – 17691R → A: Reduces phospholipid binding; when associated with A-1691; A-1695 and A-1771. 1 Publication
Mutagenesisi1771 – 17711K → A: Reduces phospholipid binding; when associated with A-1691; A-169 and A-1769. 2 Publications
Mutagenesisi1771 – 17711Missing: Reduces protein stability. 2 Publications

Keywords - Diseasei

Disease mutation, Tumor suppressor

Organism-specific databases

MIMi114500. phenotype.
162200. phenotype.
162210. phenotype.
193520. phenotype.
601321. phenotype.
607785. phenotype.
Orphaneti97685. 17q11 microdeletion syndrome.
139474. 17q11.2 microduplication syndrome.
86834. Juvenile myelomonocytic leukemia.
363700. Neurofibromatosis type 1 due to NF1mutation or intragenic deletion.
648. Noonan syndrome.
3444. Watson syndrome.
PharmGKBiPA31572.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed By similarity
Chaini2 – 28392838Neurofibromin
PRO_0000010773Add
BLAST
Chaini2 – 13051304Neurofibromin truncated
PRO_0000010774Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine By similarity
Modified residuei864 – 8641Phosphoserine3 Publications
Modified residuei876 – 8761Phosphoserine1 Publication
Modified residuei2188 – 21881Phosphoserine1 Publication
Modified residuei2515 – 25151Phosphoserine2 Publications
Modified residuei2521 – 25211Phosphoserine1 Publication
Modified residuei2543 – 25431Phosphoserine2 Publications
Modified residuei2817 – 28171Phosphoserine2 Publications

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiP21359.
PaxDbiP21359.
PRIDEiP21359.

PTM databases

PhosphoSiteiP21359.

Expressioni

Tissue specificityi

Detected in brain, peripheral nerve, lung, colon and muscle.1 Publication

Gene expression databases

ArrayExpressiP21359.
BgeeiP21359.
CleanExiHS_NF1.
GenevestigatoriP21359.

Organism-specific databases

HPAiCAB004786.
HPA045502.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
APPP050673EBI-1172917,EBI-77613
SDC2P347414EBI-1172917,EBI-1172957

Protein-protein interaction databases

BioGridi110836. 18 interactions.
IntActiP21359. 12 interactions.
MINTiMINT-1504522.
STRINGi9606.ENSP00000351015.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi1208 – 12169
Helixi1224 – 12285
Helixi1233 – 12353
Helixi1236 – 124813
Turni1249 – 12513
Helixi1253 – 126311
Beta strandi1266 – 12705
Helixi1282 – 129312
Helixi1296 – 12994
Beta strandi1300 – 13023
Turni1335 – 13373
Turni1339 – 13424
Helixi1343 – 135210
Turni1353 – 13564
Helixi1361 – 137010
Turni1394 – 13963
Helixi1402 – 141211
Helixi1414 – 14196
Helixi1434 – 14407
Helixi1442 – 145110
Helixi1462 – 14643
Helixi1465 – 14706
Helixi1472 – 148110
Helixi1510 – 15145
Helixi1517 – 15204
Helixi1535 – 154410
Helixi1569 – 157810
Turni1582 – 15865
Helixi1587 – 15904
Beta strandi1592 – 15987
Beta strandi1604 – 16096
Helixi1610 – 16123
Turni1615 – 16173
Helixi1620 – 163112
Turni1632 – 16365
Beta strandi1639 – 16446
Helixi1650 – 16523
Helixi1656 – 16616
Turni1662 – 16643
Helixi1668 – 16725
Beta strandi1674 – 16818
Helixi1684 – 16929
Helixi1694 – 16974
Turni1698 – 17025
Beta strandi1706 – 17116
Helixi1714 – 17174
Helixi1721 – 17233
Helixi1728 – 17325
Beta strandi1738 – 174912
Beta strandi1751 – 17577
Beta strandi1759 – 17679
Beta strandi1770 – 17723
Beta strandi1775 – 17773
Beta strandi1780 – 17845
Helixi1785 – 17873
Beta strandi1788 – 17958
Beta strandi1798 – 18036
Beta strandi1810 – 18134
Helixi1817 – 183317

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1NF1X-ray2.50A1198-1551[»]
2D4QX-ray2.30A/B1581-1837[»]
2E2XX-ray2.50A/B1566-1837[»]
3P7ZX-ray2.65A/B1566-1837[»]
3PEGX-ray2.52A1566-1837[»]
3PG7X-ray2.19A/B1581-1837[»]
ProteinModelPortaliP21359.
SMRiP21359. Positions 1206-1550, 1568-1837.

Miscellaneous databases

EvolutionaryTraceiP21359.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1235 – 1451217Ras-GAP
Add
BLAST
Domaini1580 – 1738159CRAL-TRIO
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1580 – 1837258Lipid binding
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi2555 – 257117Bipartite nuclear localization signal
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi1352 – 13554Poly-Ser

Domaini

Binds phospholipids via its C-terminal CRAL-TRIO domain. Binds primarily glycerophospholipids with monounsaturated C18:1 and/or C16:1 fatty acid moieties and a phosphatidylethanolamine or phosphatidylcholine headgroup. Has lesser affinity for lipids containing phosphatidylserine and phosphatidylinositol.3 Publications

Sequence similaritiesi

Contains 1 CRAL-TRIO domain.
Contains 1 Ras-GAP domain.

Phylogenomic databases

eggNOGiCOG5261.
HOGENOMiHOG000047020.
HOVERGENiHBG006486.
InParanoidiP21359.
KOiK08052.
OMAiIDFTHTC.
OrthoDBiEOG74J96W.
PhylomeDBiP21359.
TreeFamiTF300302.

Family and domain databases

Gene3Di1.25.10.10. 6 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR001251. CRAL-TRIO_dom.
IPR028553. Neurofibromin.
IPR001936. RasGAP.
IPR023152. RasGAP_CS.
IPR008936. Rho_GTPase_activation_prot.
[Graphical view]
PANTHERiPTHR10194:SF60. PTHR10194:SF60. 1 hit.
PfamiPF13716. CRAL_TRIO_2. 1 hit.
PF00616. RasGAP. 1 hit.
[Graphical view]
SMARTiSM00323. RasGAP. 1 hit.
SM00516. SEC14. 1 hit.
[Graphical view]
SUPFAMiSSF48350. SSF48350. 1 hit.
SSF48371. SSF48371. 11 hits.
PROSITEiPS50191. CRAL_TRIO. 1 hit.
PS00509. RAS_GTPASE_ACTIV_1. 1 hit.
PS50018. RAS_GTPASE_ACTIV_2. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. Align

Note: Experimental confirmation may be lacking for some isoforms.

Isoform 2 (identifier: P21359-1) [UniParc]FASTAAdd to Basket

Also known as: Type II

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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MAAHRPVEWV QAVVSRFDEQ LPIKTGQQNT HTKVSTEHNK ECLINISKYK     50
FSLVISGLTT ILKNVNNMRI FGEAAEKNLY LSQLIILDTL EKCLAGQPKD 100
TMRLDETMLV KQLLPEICHF LHTCREGNQH AAELRNSASG VLFSLSCNNF 150
NAVFSRISTR LQELTVCSED NVDVHDIELL QYINVDCAKL KRLLKETAFK 200
FKALKKVAQL AVINSLEKAF WNWVENYPDE FTKLYQIPQT DMAECAEKLF 250
DLVDGFAEST KRKAAVWPLQ IILLILCPEI IQDISKDVVD ENNMNKKLFL 300
DSLRKALAGH GGSRQLTESA AIACVKLCKA STYINWEDNS VIFLLVQSMV 350
VDLKNLLFNP SKPFSRGSQP ADVDLMIDCL VSCFRISPHN NQHFKICLAQ 400
NSPSTFHYVL VNSLHRIITN SALDWWPKID AVYCHSVELR NMFGETLHKA 450
VQGCGAHPAI RMAPSLTFKE KVTSLKFKEK PTDLETRSYK YLLLSMVKLI 500
HADPKLLLCN PRKQGPETQG STAELITGLV QLVPQSHMPE IAQEAMEALL 550
VLHQLDSIDL WNPDAPVETF WEISSQMLFY ICKKLTSHQM LSSTEILKWL 600
REILICRNKF LLKNKQADRS SCHFLLFYGV GCDIPSSGNT SQMSMDHEEL 650
LRTPGASLRK GKGNSSMDSA AGCSGTPPIC RQAQTKLEVA LYMFLWNPDT 700
EAVLVAMSCF RHLCEEADIR CGVDEVSVHN LLPNYNTFME FASVSNMMST 750
GRAALQKRVM ALLRRIEHPT AGNTEAWEDT HAKWEQATKL ILNYPKAKME 800
DGQAAESLHK TIVKRRMSHV SGGGSIDLSD TDSLQEWINM TGFLCALGGV 850
CLQQRSNSGL ATYSPPMGPV SERKGSMISV MSSEGNADTP VSKFMDRLLS 900
LMVCNHEKVG LQIRTNVKDL VGLELSPALY PMLFNKLKNT ISKFFDSQGQ 950
VLLTDTNTQF VEQTIAIMKN LLDNHTEGSS EHLGQASIET MMLNLVRYVR 1000
VLGNMVHAIQ IKTKLCQLVE VMMARRDDLS FCQEMKFRNK MVEYLTDWVM 1050
GTSNQAADDD VKCLTRDLDQ ASMEAVVSLL AGLPLQPEEG DGVELMEAKS 1100
QLFLKYFTLF MNLLNDCSEV EDESAQTGGR KRGMSRRLAS LRHCTVLAMS 1150
NLLNANVDSG LMHSIGLGYH KDLQTRATFM EVLTKILQQG TEFDTLAETV 1200
LADRFERLVE LVTMMGDQGE LPIAMALANV VPCSQWDELA RVLVTLFDSR 1250
HLLYQLLWNM FSKEVELADS MQTLFRGNSL ASKIMTFCFK VYGATYLQKL 1300
LDPLLRIVIT SSDWQHVSFE VDPTRLEPSE SLEENQRNLL QMTEKFFHAI 1350
ISSSSEFPPQ LRSVCHCLYQ ATCHSLLNKA TVKEKKENKK SVVSQRFPQN 1400
SIGAVGSAMF LRFINPAIVS PYEAGILDKK PPPRIERGLK LMSKILQSIA 1450
NHVLFTKEEH MRPFNDFVKS NFDAARRFFL DIASDCPTSD AVNHSLSFIS 1500
DGNVLALHRL LWNNQEKIGQ YLSSNRDHKA VGRRPFDKMA TLLAYLGPPE 1550
HKPVADTHWS SLNLTSSKFE EFMTRHQVHE KEEFKALKTL SIFYQAGTSK 1600
AGNPIFYYVA RRFKTGQING DLLIYHVLLT LKPYYAKPYE IVVDLTHTGP 1650
SNRFKTDFLS KWFVVFPGFA YDNVSAVYIY NCNSWVREYT KYHERLLTGL 1700
KGSKRLVFID CPGKLAEHIE HEQQKLPAAT LALEEDLKVF HNALKLAHKD 1750
TKVSIKVGST AVQVTSAERT KVLGQSVFLN DIYYASEIEE ICLVDENQFT 1800
LTIANQGTPL TFMHQECEAI VQSIIHIRTR WELSQPDSIP QHTKIRPKDV 1850
PGTLLNIALL NLGSSDPSLR SAAYNLLCAL TCTFNLKIEG QLLETSGLCI 1900
PANNTLFIVS ISKTLAANEP HLTLEFLEEC ISGFSKSSIE LKHLCLEYMT 1950
PWLSNLVRFC KHNDDAKRQR VTAILDKLIT MTINEKQMYP SIQAKIWGSL 2000
GQITDLLDVV LDSFIKTSAT GGLGSIKAEV MADTAVALAS GNVKLVSSKV 2050
IGRMCKIIDK TCLSPTPTLE QHLMWDDIAI LARYMLMLSF NNSLDVAAHL 2100
PYLFHVVTFL VATGPLSLRA STHGLVINII HSLCTCSQLH FSEETKQVLR 2150
LSLTEFSLPK FYLLFGISKV KSAAVIAFRS SYRDRSFSPG SYERETFALT 2200
SLETVTEALL EIMEACMRDI PTCKWLDQWT ELAQRFAFQY NPSLQPRALV 2250
VFGCISKRVS HGQIKQIIRI LSKALESCLK GPDTYNSQVL IEATVIALTK 2300
LQPLLNKDSP LHKALFWVAV AVLQLDEVNL YSAGTALLEQ NLHTLDSLRI 2350
FNDKSPEEVF MAIRNPLEWH CKQMDHFVGL NFNSNFNFAL VGHLLKGYRH 2400
PSPAIVARTV RILHTLLTLV NKHRNCDKFE VNTQSVAYLA ALLTVSEEVR 2450
SRCSLKHRKS LLLTDISMEN VPMDTYPIHH GDPSYRTLKE TQPWSSPKGS 2500
EGYLAATYPT VGQTSPRARK SMSLDMGQPS QANTKKLLGT RKSFDHLISD 2550
TKAPKRQEME SGITTPPKMR RVAETDYEME TQRISSSQQH PHLRKVSVSE 2600
SNVLLDEEVL TDPKIQALLL TVLATLVKYT TDEFDQRILY EYLAEASVVF 2650
PKVFPVVHNL LDSKINTLLS LCQDPNLLNP IHGIVQSVVY HEESPPQYQT 2700
SYLQSFGFNG LWRFAGPFSK QTQIPDYAEL IVKFLDALID TYLPGIDEET 2750
SEESLLTPTS PYPPALQSQL SITANLNLSN SMTSLATSQH SPGIDKENVE 2800
LSPTTGHCNS GRTRHGSASQ VQKQRSAGSF KRNSIKKIV 2839
Length:2,839
Mass (Da):319,372
Last modified:June 1, 1994 - v2
Checksum:iC079475139DBD51E
GO
Isoform 1 (identifier: P21359-2) [UniParc]FASTAAdd to Basket

Also known as: Type I

The sequence of this isoform differs from the canonical sequence as follows:
     1371-1391: Missing.

Show »
Length:2,818
Mass (Da):317,033
Checksum:i7E5B89158317C56C
GO
Isoform 3 (identifier: P21359-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     548-551: ALLV → VRGK
     552-2839: Missing.

Show »
Length:551
Mass (Da):62,300
Checksum:iD783EC85BCE926D7
GO
Isoform 4 (identifier: P21359-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1591-1598: SIFYQAGT → TPPPEPET
     1599-2839: Missing.

Show »
Length:1,598
Mass (Da):180,213
Checksum:iF76BC6C54FC08C8C
GO
Isoform 5 (identifier: P21359-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     574-593: SSQMLFYICKKLTSHQMLSS → RYMYFYFLNSTFKFYFVFLS
     594-2839: Missing.

Show »
Length:593
Mass (Da):67,543
Checksum:i9ECE9DBD67A10A16
GO
Isoform 6 (identifier: P21359-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1371-1391: Missing.
     2792-2792: P → PASLPCSNSAVFMQLFPHQ

Show »
Length:2,836
Mass (Da):318,992
Checksum:i3D265EB28B8F8282
GO

Sequence cautioni

The sequence AAA59923.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

RNA editingi

The stop codon (UGA) at position 1306 is created by RNA editing. Various levels of RNA editing occurs in peripheral nerve-sheath tumor samples (PNSTs) from patients with NF1. Preferentially observed in transcripts containing exon 23A.2 Publications

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti31 – 311H → R in NF1. 1 Publication
Corresponds to variant rs199474725 [ dbSNP | Ensembl ].
VAR_032459
Natural varianti74 – 741A → D in mismatch repair deficient cancer cells. 1 Publication
Corresponds to variant rs199474726 [ dbSNP | Ensembl ].
VAR_017550
Natural varianti80 – 801Y → C.1 Publication
VAR_022254
Natural varianti80 – 801Y → S.
Corresponds to variant rs4795581 [ dbSNP | Ensembl ].
VAR_049135
Natural varianti82 – 821S → F in NF1. 1 Publication
Corresponds to variant rs199474729 [ dbSNP | Ensembl ].
VAR_021730
Natural varianti93 – 931C → Y in NF1. 1 Publication
Corresponds to variant rs199474728 [ dbSNP | Ensembl ].
VAR_017551
Natural varianti117 – 1171I → S in NF1. 1 Publication
Corresponds to variant rs199474731 [ dbSNP | Ensembl ].
VAR_010989
Natural varianti145 – 1451L → P in NF1. 1 Publication
Corresponds to variant rs199474734 [ dbSNP | Ensembl ].
VAR_032460
Natural varianti157 – 1571I → N in NF1. 1 Publication
Corresponds to variant rs199474744 [ dbSNP | Ensembl ].
VAR_021731
Natural varianti160 – 1601R → T in NF1. 1 Publication
Corresponds to variant rs199474752 [ dbSNP | Ensembl ].
VAR_065888
Natural varianti176 – 1761D → E Found in mismatch repair deficient cancer cells; also found in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. 5 Publications
Corresponds to variant rs112306990 [ dbSNP | Ensembl ].
VAR_017552
Natural varianti186 – 1861D → V in NF1; reduced splicing enhancement. 1 Publication
VAR_032461
Natural varianti194 – 1941L → R in NFNS. 1 Publication
Corresponds to variant rs199474753 [ dbSNP | Ensembl ].
VAR_032462
Natural varianti216 – 2161L → P in NF1. 1 Publication
Corresponds to variant rs199474756 [ dbSNP | Ensembl ].
VAR_021732
Natural varianti324 – 3241C → R in NF1. 1 Publication
Corresponds to variant rs199474735 [ dbSNP | Ensembl ].
VAR_032463
Natural varianti330 – 3301A → T in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. 1 Publication
Corresponds to variant rs199474767 [ dbSNP | Ensembl ].
VAR_067201
Natural varianti337 – 3371E → V in NF1. 1 Publication
Corresponds to variant rs199474736 [ dbSNP | Ensembl ].
VAR_032464
Natural varianti338 – 3381D → G in NF1. 1 Publication
Corresponds to variant rs199474773 [ dbSNP | Ensembl ].
VAR_010990
Natural varianti357 – 3571L → P in NF1. 1 Publication
Corresponds to variant rs137854563 [ dbSNP | Ensembl ].
VAR_021733
Natural varianti393 – 3931H → D in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. 1 Publication
Corresponds to variant rs199474768 [ dbSNP | Ensembl ].
VAR_067202
Natural varianti393 – 3931H → L in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. 1 Publication
Corresponds to variant rs199474769 [ dbSNP | Ensembl ].
VAR_067203
Natural varianti489 – 4891Y → C in NF1. 1 Publication
Corresponds to variant rs137854557 [ dbSNP | Ensembl ].
VAR_032465
Natural varianti491 – 4911Y → C in NF1. 1 Publication
Corresponds to variant rs199474757 [ dbSNP | Ensembl ].
VAR_021734
Natural varianti508 – 5081L → P in NF1. 1 Publication
Corresponds to variant rs137854558 [ dbSNP | Ensembl ].
VAR_010991
Natural varianti519 – 5191Q → P in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. 1 Publication
Corresponds to variant rs199474770 [ dbSNP | Ensembl ].
VAR_067204
Natural varianti532 – 5321L → P in NF1. 1 Publication
Corresponds to variant rs199474737 [ dbSNP | Ensembl ].
VAR_032466
Natural varianti549 – 5491L → P in NF1. 1 Publication
Corresponds to variant rs199474758 [ dbSNP | Ensembl ].
VAR_021735
Natural varianti574 – 5741S → R in NF1. 1 Publication
VAR_032467
Natural varianti578 – 5781L → R in NF1. 1 Publication
Corresponds to variant rs199474774 [ dbSNP | Ensembl ].
VAR_021736
Natural varianti581 – 5811I → T in NF1. 1 Publication
Corresponds to variant rs199474759 [ dbSNP | Ensembl ].
VAR_021737
Natural varianti583 – 5831K → R in NF1. 1 Publication
Corresponds to variant rs199474760 [ dbSNP | Ensembl ].
VAR_021738
Natural varianti604 – 6041L → V in NF1. 1 Publication
Corresponds to variant rs142712751 [ dbSNP | Ensembl ].
VAR_017553
Natural varianti629 – 6291G → R in NF1; affects splicing by creating a novel splice acceptor site. 3 Publications
Corresponds to variant rs199474738 [ dbSNP | Ensembl ].
VAR_002653
Natural varianti665 – 6651S → F in NF1; unknown pathological significance. 2 Publications
Corresponds to variant rs145891889 [ dbSNP | Ensembl ].
VAR_021739
Natural varianti678 – 6781P → L.1 Publication
Corresponds to variant rs17881753 [ dbSNP | Ensembl ].
VAR_022255
Natural varianti695 – 6951L → P in NF1. 1 Publication
Corresponds to variant rs199474761 [ dbSNP | Ensembl ].
VAR_021740
Natural varianti712 – 7121H → R in mismatch repair deficient cancer cells. 1 Publication
Corresponds to variant rs199474727 [ dbSNP | Ensembl ].
VAR_017554
Natural varianti763 – 7631L → P in NF1. 1 Publication
Corresponds to variant rs199474762 [ dbSNP | Ensembl ].
VAR_021741
Natural varianti765 – 7651R → H.1 Publication
Corresponds to variant rs199474777 [ dbSNP | Ensembl ].
VAR_021742
Natural varianti776 – 7761A → T in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. 1 Publication
Corresponds to variant rs199474771 [ dbSNP | Ensembl ].
VAR_067205
Natural varianti777 – 7771W → S in NF1. 2 Publications
Corresponds to variant rs199474745 [ dbSNP | Ensembl ].
VAR_021743
Natural varianti780 – 7801T → K in NF1. 4 Publications
Corresponds to variant rs199474746 [ dbSNP | Ensembl ].
VAR_021744
Natural varianti781 – 7811H → P in NF1. 1 Publication
Corresponds to variant rs199474763 [ dbSNP | Ensembl ].
VAR_021745
Natural varianti784 – 7841W → C in NF1. 1 Publication
Corresponds to variant rs199474778 [ dbSNP | Ensembl ].
VAR_021746
Natural varianti784 – 7841W → R in NF1. 2 Publications
Corresponds to variant rs199474730 [ dbSNP | Ensembl ].
VAR_021747
Natural varianti844 – 8441L → F in NF1. 2 Publications
Corresponds to variant rs199474785 [ dbSNP | Ensembl ].
VAR_010992
Natural varianti844 – 8441L → P in NF1. 1 Publication
Corresponds to variant rs137854566 [ dbSNP | Ensembl ].
VAR_032468
Natural varianti844 – 8441L → R in NF1; sporadic. 3 Publications
Corresponds to variant rs137854566 [ dbSNP | Ensembl ].
VAR_002654
Natural varianti847 – 8471L → P in NF1. 3 Publications
Corresponds to variant rs199474747 [ dbSNP | Ensembl ].
VAR_021748
Natural varianti848 – 8481G → E in NF1. 2 Publications
Corresponds to variant rs199474748 [ dbSNP | Ensembl ].
VAR_021749
Natural varianti873 – 8731R → C.1 Publication
Corresponds to variant rs199474739 [ dbSNP | Ensembl ].
VAR_032469
Natural varianti898 – 8981L → P in NF1; sporadic. 2 Publications
Corresponds to variant rs199474786 [ dbSNP | Ensembl ].
VAR_002655
Natural varianti920 – 9201L → P in NF1; patient with cafe-au-lait spots; may be a distinct form of NF1. 1 Publication
Corresponds to variant rs199474775 [ dbSNP | Ensembl ].
VAR_021750
Natural varianti968 – 9681M → R in NF1. 2 Publications
Corresponds to variant rs199474749 [ dbSNP | Ensembl ].
VAR_021751
Natural varianti991 – 9911Missing in NF1. 2 Publications
VAR_002656
Natural varianti1035 – 10351M → R in NF1. 1 Publication
Corresponds to variant rs137854553 [ dbSNP | Ensembl ].
VAR_002657
Natural varianti1073 – 10731M → V in NF1. 1 Publication
Corresponds to variant rs199474740 [ dbSNP | Ensembl ].
VAR_032470
Natural varianti1147 – 11471L → P in NF1. 1 Publication
Corresponds to variant rs199474779 [ dbSNP | Ensembl ].
VAR_021752
Natural varianti1156 – 11561N → S in NF1. 1 Publication
Corresponds to variant rs199474764 [ dbSNP | Ensembl ].
VAR_021753
Natural varianti1166 – 11661G → D in NF1. 1 Publication
Corresponds to variant rs199474787 [ dbSNP | Ensembl ].
VAR_010993
Natural varianti1187 – 11871L → I in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035543
Natural varianti1193 – 11931F → C in NF1. 1 Publication
Corresponds to variant rs199474780 [ dbSNP | Ensembl ].
VAR_021754
Natural varianti1196 – 11961L → R in NF1. 1 Publication
Corresponds to variant rs199474741 [ dbSNP | Ensembl ].
VAR_032471
Natural varianti1204 – 12041R → G in NF1. 1 Publication
Corresponds to variant rs199474732 [ dbSNP | Ensembl ].
VAR_021755
Natural varianti1204 – 12041R → W in NF1. 1 Publication
Corresponds to variant rs199474732 [ dbSNP | Ensembl ].
VAR_010994
Natural varianti1243 – 12431L → P in NF1; with neurofibromatous neuropathy. 1 Publication
Corresponds to variant rs137854564 [ dbSNP | Ensembl ].
VAR_032472
Natural varianti1250 – 12501R → P in NF1. 1 Publication
Corresponds to variant rs199474765 [ dbSNP | Ensembl ].
VAR_021756
Natural varianti1276 – 12761R → G in NF1. 1 Publication
Corresponds to variant rs199474742 [ dbSNP | Ensembl ].
VAR_032473
Natural varianti1276 – 12761R → P in NF1; complete loss of GAP activity. 2 Publications
Corresponds to variant rs137854556 [ dbSNP | Ensembl ].
VAR_010995
Natural varianti1276 – 12761R → Q in NF1 and mismatch repair deficient cancer cells. 3 Publications
Corresponds to variant rs137854556 [ dbSNP | Ensembl ].
VAR_017555
Natural varianti1411 – 14111L → F in NFNS. 1 Publication
Corresponds to variant rs199474789 [ dbSNP | Ensembl ].
VAR_065236
Natural varianti1412 – 14121R → S in NF1; significant reduction of GAP activity. 1 Publication
Corresponds to variant rs137854554 [ dbSNP | Ensembl ].
VAR_010996
Natural varianti1422 – 14221Y → H.1 Publication
Corresponds to variant rs17884349 [ dbSNP | Ensembl ].
VAR_022256
Natural varianti1430 – 14301K → E in NF1. 1 Publication
VAR_032474
Natural varianti1440 – 14401K → Q in NF1. 1 Publication
Corresponds to variant rs199474790 [ dbSNP | Ensembl ].
VAR_010997
Natural varianti1440 – 14401K → R in NF1. 1 Publication
Corresponds to variant rs199474788 [ dbSNP | Ensembl ].
VAR_002658
Natural varianti1444 – 14441K → E in NF1 and NFNS; significant reduction of intrinsic GAP activity. 4 Publications
Corresponds to variant rs137854550 [ dbSNP | Ensembl ].
VAR_002659
Natural varianti1444 – 14441K → N in NF1. 2 Publications
Corresponds to variant rs199474750 [ dbSNP | Ensembl ].
VAR_021757
Natural varianti1444 – 14441K → R in NF1. 1 Publication
Corresponds to variant rs199474781 [ dbSNP | Ensembl ].
VAR_021758
Natural varianti1446 – 14461L → P in NF1. 3 Publications
Corresponds to variant rs199474733 [ dbSNP | Ensembl ].
VAR_008129
Natural varianti1451 – 14511N → T in NFNS. 1 Publication
Corresponds to variant rs199474754 [ dbSNP | Ensembl ].
VAR_032475
Natural varianti1453 – 14531V → L in NFNS. 1 Publication
Corresponds to variant rs199474755 [ dbSNP | Ensembl ].
VAR_032476
Natural varianti1459 – 14591Missing in NFNS. 3 Publications
VAR_032477
Natural varianti1484 – 14841S → F in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation. 1 Publication
Corresponds to variant rs199474772 [ dbSNP | Ensembl ].
VAR_067206
Natural varianti1489 – 14891S → G in NF1. 2 Publications