sujigwak/NVAR huggingface dataset:
UniProt ID: P00439
Variant: Y -> C at position 377-377
Variant annotation: in PAH deficiency; severe; dbSNP:rs62642942
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: T -> M at position 380-380
Variant annotation: in PAH deficiency; dbSNP:rs62642937
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: Y -> C at position 386-386
Variant annotation: in PAH deficiency; severe; dbSNP:rs62516141
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: Y -> H at position 387-387
Variant annotation: in PAH deficiency; severe; dbSNP:rs62517194
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: V -> L at position 388-388
Variant annotation: in PAH deficiency; severe; dbSNP:rs62516101
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: V -> M at position 388-388
Variant annotation: in PAH deficiency; severe; dbSNP:rs62516101
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: E -> G at position 390-390
Variant annotation: in PAH deficiency; dbSNP:rs5030856
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: D -> A at position 394-394
Variant annotation: in PAH deficiency; severe; dbSNP:rs62516102
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: D -> H at position 394-394
Variant annotation: in PAH deficiency; severe; dbSNP:rs62516142
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: A -> G at position 395-395
Variant annotation: in PAH deficiency; severe; dbSNP:rs62508736
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: A -> P at position 395-395
Variant annotation: in PAH deficiency; severe; dbSNP:rs62516103
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: A -> V at position 403-403
Variant annotation: in PAH deficiency; dbSNP:rs5030857
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: P -> L at position 407-407
Variant annotation: in PAH deficiency; severe; dbSNP:rs62644473
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: P -> S at position 407-407
Variant annotation: in PAH deficiency; severe; dbSNP:rs62644465
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: R -> Q at position 408-408
Variant annotation: in PAH deficiency; severe; dbSNP:rs5030859
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: R -> W at position 408-408
Variant annotation: in PAH deficiency; most common mutation; reduction in activity is probably due to a global conformational change in the protein that reduces allostery; dbSNP:rs5030858
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: F -> S at position 410-410
Variant annotation: in PAH deficiency; mild; dbSNP:rs62644475
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: R -> P at position 413-413
Variant annotation: in PAH deficiency; dbSNP:rs79931499
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: R -> S at position 413-413
Variant annotation: in PAH deficiency; severe; dbSNP:rs62644467
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: Y -> C at position 414-414
Variant annotation: in PAH deficiency; does not affect oligomerization; reduction in activity is probably due to a global conformational change in the protein that reduces allostery; dbSNP:rs5030860
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: D -> N at position 415-415
Variant annotation: in PAH deficiency; dbSNP:rs62644499
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: Y -> H at position 417-417
Variant annotation: in PAH deficiency; severe; reduction in activity is probably due to a global conformational change in the protein that reduces allostery; dbSNP:rs62644471
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: T -> P at position 418-418
Variant annotation: in PAH deficiency; severe; dbSNP:rs62644501
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: I -> S at position 421-421
Variant annotation: in PAH deficiency; severe; dbSNP:rs199475696
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: L -> P at position 430-430
Variant annotation: in PAH deficiency; severe; dbSNP:rs199475607
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00439
Variant: A -> D at position 447-447
Variant annotation: in PAH deficiency; severe; dbSNP:rs76542238
Protein function: Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Reference sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
UniProt ID: P00440
Variant: P -> T at position 15-15
Variant annotation: in strain: Sing, TL and TS
Protein function: This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds.
Reference sequence:
MSTDIKFAITGVPTPPSSNGAVPLRRELRDLQQNYPEQFNLYLLGLRDFQGLDEAKLDSYYQVAGIHGMPFKPWAGVPSDTDWSQPGSSGFGGYCTHSSILFITWHRPYLALYEQALYASVQAVAQKFPVEGGLRAKYVAAAKDFRAPYFDWASQPPKGTLAFPESLSSRTIQVVDVDGKTKSINNPLHRFTFHPVNPSPGDFSAAWSRYPSTVRYPNRLTGASRDERIAPILANELASLRNNVSLLLLSYKDFDAFSYNRWDPNTNPGDFGSLEDVHNEIHDRTGGNGHMSSLEVSAFDPLFWLHHVNVDRLWSIWQDLNPNSFMTPRPAPYSTFVAQEGESQSKSTPLEPFWDKSAANFWTSEQVKDSITFGYAYPETQKWKYSSVKEYQAAIRKSVTALYGSNVFANFVENVADRTPALKKPQATGEESKSTVSAAAAHAVELSGAKKVAEKVHNVFQHAEEKAQKPVVPVKDTKAESSTAAGMMIGLSIKRPSKLTASPGPIPESLKYLAPDGKYTDWIVNVRAQKHGLGQSFRVIVFLGEFNPDPETWDDEFNCVGRVSVLGRSAETQCGKCRKDNANGLIVSGTVPLTSALLQDIVGGELQSLKPEDVIPHLRANLKWKVALFNGDEYNLEEVPDLKVSVASTEVTIDEEGLPHYSRQYTVYPEITEGKPCGHGPEDHI
UniProt ID: P00440
Variant: D -> E at position 30-30
Variant annotation: in strain: Sing
Protein function: This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds.
Reference sequence:
MSTDIKFAITGVPTPPSSNGAVPLRRELRDLQQNYPEQFNLYLLGLRDFQGLDEAKLDSYYQVAGIHGMPFKPWAGVPSDTDWSQPGSSGFGGYCTHSSILFITWHRPYLALYEQALYASVQAVAQKFPVEGGLRAKYVAAAKDFRAPYFDWASQPPKGTLAFPESLSSRTIQVVDVDGKTKSINNPLHRFTFHPVNPSPGDFSAAWSRYPSTVRYPNRLTGASRDERIAPILANELASLRNNVSLLLLSYKDFDAFSYNRWDPNTNPGDFGSLEDVHNEIHDRTGGNGHMSSLEVSAFDPLFWLHHVNVDRLWSIWQDLNPNSFMTPRPAPYSTFVAQEGESQSKSTPLEPFWDKSAANFWTSEQVKDSITFGYAYPETQKWKYSSVKEYQAAIRKSVTALYGSNVFANFVENVADRTPALKKPQATGEESKSTVSAAAAHAVELSGAKKVAEKVHNVFQHAEEKAQKPVVPVKDTKAESSTAAGMMIGLSIKRPSKLTASPGPIPESLKYLAPDGKYTDWIVNVRAQKHGLGQSFRVIVFLGEFNPDPETWDDEFNCVGRVSVLGRSAETQCGKCRKDNANGLIVSGTVPLTSALLQDIVGGELQSLKPEDVIPHLRANLKWKVALFNGDEYNLEEVPDLKVSVASTEVTIDEEGLPHYSRQYTVYPEITEGKPCGHGPEDHI
UniProt ID: P00440
Variant: V -> T at position 130-130
Variant annotation: in strain: Sing
Protein function: This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds.
Reference sequence:
MSTDIKFAITGVPTPPSSNGAVPLRRELRDLQQNYPEQFNLYLLGLRDFQGLDEAKLDSYYQVAGIHGMPFKPWAGVPSDTDWSQPGSSGFGGYCTHSSILFITWHRPYLALYEQALYASVQAVAQKFPVEGGLRAKYVAAAKDFRAPYFDWASQPPKGTLAFPESLSSRTIQVVDVDGKTKSINNPLHRFTFHPVNPSPGDFSAAWSRYPSTVRYPNRLTGASRDERIAPILANELASLRNNVSLLLLSYKDFDAFSYNRWDPNTNPGDFGSLEDVHNEIHDRTGGNGHMSSLEVSAFDPLFWLHHVNVDRLWSIWQDLNPNSFMTPRPAPYSTFVAQEGESQSKSTPLEPFWDKSAANFWTSEQVKDSITFGYAYPETQKWKYSSVKEYQAAIRKSVTALYGSNVFANFVENVADRTPALKKPQATGEESKSTVSAAAAHAVELSGAKKVAEKVHNVFQHAEEKAQKPVVPVKDTKAESSTAAGMMIGLSIKRPSKLTASPGPIPESLKYLAPDGKYTDWIVNVRAQKHGLGQSFRVIVFLGEFNPDPETWDDEFNCVGRVSVLGRSAETQCGKCRKDNANGLIVSGTVPLTSALLQDIVGGELQSLKPEDVIPHLRANLKWKVALFNGDEYNLEEVPDLKVSVASTEVTIDEEGLPHYSRQYTVYPEITEGKPCGHGPEDHI
UniProt ID: P00440
Variant: D -> N at position 202-202
Variant annotation: in strain: TL
Protein function: This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds.
Reference sequence:
MSTDIKFAITGVPTPPSSNGAVPLRRELRDLQQNYPEQFNLYLLGLRDFQGLDEAKLDSYYQVAGIHGMPFKPWAGVPSDTDWSQPGSSGFGGYCTHSSILFITWHRPYLALYEQALYASVQAVAQKFPVEGGLRAKYVAAAKDFRAPYFDWASQPPKGTLAFPESLSSRTIQVVDVDGKTKSINNPLHRFTFHPVNPSPGDFSAAWSRYPSTVRYPNRLTGASRDERIAPILANELASLRNNVSLLLLSYKDFDAFSYNRWDPNTNPGDFGSLEDVHNEIHDRTGGNGHMSSLEVSAFDPLFWLHHVNVDRLWSIWQDLNPNSFMTPRPAPYSTFVAQEGESQSKSTPLEPFWDKSAANFWTSEQVKDSITFGYAYPETQKWKYSSVKEYQAAIRKSVTALYGSNVFANFVENVADRTPALKKPQATGEESKSTVSAAAAHAVELSGAKKVAEKVHNVFQHAEEKAQKPVVPVKDTKAESSTAAGMMIGLSIKRPSKLTASPGPIPESLKYLAPDGKYTDWIVNVRAQKHGLGQSFRVIVFLGEFNPDPETWDDEFNCVGRVSVLGRSAETQCGKCRKDNANGLIVSGTVPLTSALLQDIVGGELQSLKPEDVIPHLRANLKWKVALFNGDEYNLEEVPDLKVSVASTEVTIDEEGLPHYSRQYTVYPEITEGKPCGHGPEDHI
UniProt ID: P00440
Variant: KS -> QN at position 346-347
Variant annotation: in strain: Sing
Protein function: This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds.
Reference sequence:
MSTDIKFAITGVPTPPSSNGAVPLRRELRDLQQNYPEQFNLYLLGLRDFQGLDEAKLDSYYQVAGIHGMPFKPWAGVPSDTDWSQPGSSGFGGYCTHSSILFITWHRPYLALYEQALYASVQAVAQKFPVEGGLRAKYVAAAKDFRAPYFDWASQPPKGTLAFPESLSSRTIQVVDVDGKTKSINNPLHRFTFHPVNPSPGDFSAAWSRYPSTVRYPNRLTGASRDERIAPILANELASLRNNVSLLLLSYKDFDAFSYNRWDPNTNPGDFGSLEDVHNEIHDRTGGNGHMSSLEVSAFDPLFWLHHVNVDRLWSIWQDLNPNSFMTPRPAPYSTFVAQEGESQSKSTPLEPFWDKSAANFWTSEQVKDSITFGYAYPETQKWKYSSVKEYQAAIRKSVTALYGSNVFANFVENVADRTPALKKPQATGEESKSTVSAAAAHAVELSGAKKVAEKVHNVFQHAEEKAQKPVVPVKDTKAESSTAAGMMIGLSIKRPSKLTASPGPIPESLKYLAPDGKYTDWIVNVRAQKHGLGQSFRVIVFLGEFNPDPETWDDEFNCVGRVSVLGRSAETQCGKCRKDNANGLIVSGTVPLTSALLQDIVGGELQSLKPEDVIPHLRANLKWKVALFNGDEYNLEEVPDLKVSVASTEVTIDEEGLPHYSRQYTVYPEITEGKPCGHGPEDHI
UniProt ID: P00440
Variant: I -> T at position 371-371
Variant annotation: in strain: Sing
Protein function: This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds.
Reference sequence:
MSTDIKFAITGVPTPPSSNGAVPLRRELRDLQQNYPEQFNLYLLGLRDFQGLDEAKLDSYYQVAGIHGMPFKPWAGVPSDTDWSQPGSSGFGGYCTHSSILFITWHRPYLALYEQALYASVQAVAQKFPVEGGLRAKYVAAAKDFRAPYFDWASQPPKGTLAFPESLSSRTIQVVDVDGKTKSINNPLHRFTFHPVNPSPGDFSAAWSRYPSTVRYPNRLTGASRDERIAPILANELASLRNNVSLLLLSYKDFDAFSYNRWDPNTNPGDFGSLEDVHNEIHDRTGGNGHMSSLEVSAFDPLFWLHHVNVDRLWSIWQDLNPNSFMTPRPAPYSTFVAQEGESQSKSTPLEPFWDKSAANFWTSEQVKDSITFGYAYPETQKWKYSSVKEYQAAIRKSVTALYGSNVFANFVENVADRTPALKKPQATGEESKSTVSAAAAHAVELSGAKKVAEKVHNVFQHAEEKAQKPVVPVKDTKAESSTAAGMMIGLSIKRPSKLTASPGPIPESLKYLAPDGKYTDWIVNVRAQKHGLGQSFRVIVFLGEFNPDPETWDDEFNCVGRVSVLGRSAETQCGKCRKDNANGLIVSGTVPLTSALLQDIVGGELQSLKPEDVIPHLRANLKWKVALFNGDEYNLEEVPDLKVSVASTEVTIDEEGLPHYSRQYTVYPEITEGKPCGHGPEDHI
UniProt ID: P00440
Variant: K -> N at position 424-424
Variant annotation: in strain: TS
Protein function: This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds.
Reference sequence:
MSTDIKFAITGVPTPPSSNGAVPLRRELRDLQQNYPEQFNLYLLGLRDFQGLDEAKLDSYYQVAGIHGMPFKPWAGVPSDTDWSQPGSSGFGGYCTHSSILFITWHRPYLALYEQALYASVQAVAQKFPVEGGLRAKYVAAAKDFRAPYFDWASQPPKGTLAFPESLSSRTIQVVDVDGKTKSINNPLHRFTFHPVNPSPGDFSAAWSRYPSTVRYPNRLTGASRDERIAPILANELASLRNNVSLLLLSYKDFDAFSYNRWDPNTNPGDFGSLEDVHNEIHDRTGGNGHMSSLEVSAFDPLFWLHHVNVDRLWSIWQDLNPNSFMTPRPAPYSTFVAQEGESQSKSTPLEPFWDKSAANFWTSEQVKDSITFGYAYPETQKWKYSSVKEYQAAIRKSVTALYGSNVFANFVENVADRTPALKKPQATGEESKSTVSAAAAHAVELSGAKKVAEKVHNVFQHAEEKAQKPVVPVKDTKAESSTAAGMMIGLSIKRPSKLTASPGPIPESLKYLAPDGKYTDWIVNVRAQKHGLGQSFRVIVFLGEFNPDPETWDDEFNCVGRVSVLGRSAETQCGKCRKDNANGLIVSGTVPLTSALLQDIVGGELQSLKPEDVIPHLRANLKWKVALFNGDEYNLEEVPDLKVSVASTEVTIDEEGLPHYSRQYTVYPEITEGKPCGHGPEDHI