Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P21359

- NF1_HUMAN

UniProt

P21359 - NF1_HUMAN

Protein

Neurofibromin

Gene

NF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 181 (01 Oct 2014)
      Sequence version 2 (01 Jun 1994)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

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

    GO - Biological processi

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

    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 1 Publication. 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. membrane Source: UniProtKB
    6. nucleolus Source: UniProtKB-SubCell
    7. nucleus Source: HGNC

    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.29 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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. 1 Publication
    Corresponds to variant rs199474766 [ dbSNP | Ensembl ].
    VAR_021759
    Natural varianti1611 – 16111R → W in NF1. 1 Publication
    VAR_002660
    Natural varianti1733 – 17331L → LGHEQQKLPAATLAL in NF1. 1 Publication
    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. 1 Publication
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 11RemovedBy similarity
    Chaini2 – 28392838NeurofibrominPRO_0000010773Add
    BLAST
    Chaini2 – 13051304Neurofibromin truncatedPRO_0000010774Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanineBy 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

    1
    2839
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP21359.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1235 – 1451217Ras-GAPPROSITE-ProRule annotationAdd
    BLAST
    Domaini1580 – 1738159CRAL-TRIOPROSITE-ProRule annotationAdd
    BLAST

    Region

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

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi2555 – 257117Bipartite nuclear localization signalAdd
    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.PROSITE-ProRule annotation
    Contains 1 Ras-GAP domain.PROSITE-ProRule annotation

    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.

    « Hide

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti496 – 4961M → I in AAA74897. (PubMed:2116237)Curated
    Sequence conflicti496 – 4961M → I in AAB59558. (PubMed:2116237)Curated
    Sequence conflicti1094 – 10952EL → ST in AAA59923. (PubMed:2121370)Curated
    Sequence conflicti1576 – 15761H → HH in AAA74897. (PubMed:2116237)Curated
    Sequence conflicti1576 – 15761H → HH in AAB59558. (PubMed:2116237)Curated

    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.

    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