US2015017649A1PendingUtilityA1
Compositions and methods for detecting noonan syndrome
Est. expiryNov 16, 2026(~0.3 yrs left)· nominal 20-yr term from priority
C12Q 2600/112C12Q 1/6883C12Q 2600/156G01N 2333/9121G01N 2800/38G01N 2333/4706C12Q 2600/136C12Q 2600/158
63
PatentIndex Score
0
Cited by
0
References
0
Claims
Abstract
Diagnostic and therapeutic applications for Noonan Syndrome are described. The diagnostic and therapeutic applications are based on certain mutations in a RAS-specific guanine nucleotide exchange factor gene SOS1 or its expression product. The diagnostic and therapeutic applications are also based on certain mutations in a serine/threonine protein kinase gene RAFl or its expression product thereof. Also described are nucleotide sequences, amino acid sequences, probes, and primers related to RAF1 or SOS1, and variants thereof, as well as host cells expressing such variants.
Claims
exact text as granted — not AI-modified1 - 68 . (canceled)
69 . A method for diagnosing Noonan syndrome in a human subject suspected of having Noonan syndrome, comprising detecting a mutation in a serine/threonine protein kinase (RAF1) nucleic acid molecule of SEQ ID NO:1 from the subject, wherein the mutation results in an amino acid substitution in a conserved region 2 (CR2) domain, conserved region 3 (CR3) domain, or at the carboxy-terminus of a RAF1 polypeptide encoded by the RAF1 nucleic acid molecule.
70 . The method of claim 69 wherein the mutation in the RAF1 polypeptide is in an amino acid involved in autoinhibition activity.
71 . The method of claim 70 wherein the autoinhibition activity is reduced as compared to RAF1 polypeptide of SEQ ID NO:2.
72 . The method of claim 69 wherein the mutated RAF1 polypeptide has increased guanine nucleotide exchange factor activity as compared to a basal level of activity of an RAF1 polypeptide of SEQ ID NO:2.
73 . The method of claim 69 wherein the mutation in the RAF1 polypeptide is in a CR2 domain.
74 . The method of claim 73 wherein the mutation in the RAF1 polypeptide is an R to S substitution at position 256 of SEQ ID NO:2.
75 . The method of claim 73 wherein the mutation in the RAF1 polypeptide is an S to L substitution at position 257 of SEQ ID NO:2.
76 . The method of claim 73 wherein the mutation in the RAF1 polypeptide is an S to F substitution at position 259 of SEQ ID NO:2.
77 . The method of claim 73 wherein the mutation in the RAF1 polypeptide is a T to R substitution at position 260 of SEQ ID NO:2.
78 . The method of claim 73 wherein the mutation in the RAF1 polypeptide is a P to S substitution at position 261 of SEQ ID NO:2.
79 . The method of claim 73 wherein the mutation in the RAF1 polypeptide is a P to L substitution at position 261 of SEQ ID NO:2.
80 . The method of claim 73 wherein the mutation in the RAF1 nucleic acid molecule is in exon 7.
81 . The method of claim 73 wherein the mutation in the RAF1 nucleic acid molecule is a G to C substitution at position 1161 of SEQ ID NO:1.
82 . The method of claim 73 wherein the mutation in the RAF1 nucleic acid molecule is a G to T substitution at position 1161 of SEQ ID NO: 1.
83 . The method of claim 73 wherein the mutation in the RAF1 nucleic acid molecule is a C to T substitution at position 1163 of SEQ ID NO: 1.
84 . The method of claim 73 wherein the mutation in the RAF1 nucleic acid molecule is a C to T substitution at position 1169 of SEQ ID NO:1.
85 . The method of claim 73 wherein the mutation in the RAF1 nucleic acid molecule is a C to G substitution at position 1172 of SEQ ID NO:1.
86 . The method of claim 73 wherein the mutation in the RAF1 nucleic acid molecule is a C to T substitution at position 1174 of SEQ ID NO:1.
87 . The method of claim 73 wherein the mutation in the RAF1 nucleic acid molecule is a C to T substitution at position 1175 of SEQ ID NO:1.
88 . The method of claim 69 wherein the mutation in the RAF1 polypeptide is in a CR3 domain.
89 . The method of claim 88 wherein the mutation in the RAF1 polypeptide is a D to N substitution at position 486 of SEQ ID NO:2.
90 . The method of claim 88 wherein the mutation in the RAF1 polypeptide is a D to G substitution at position 486 of SEQ ID NO:2.
91 . The method of claim 88 wherein the mutation in the RAF1 polypeptide is a T to I substitution at position 491 of SEQ ID NO:2.
92 . The method of claim 88 wherein the mutation in the RAF1 polypeptide is a T to R substitution at position 491 of SEQ ID NO:2.
93 . The method of claim 88 wherein the mutation in the RAF1 nucleic acid molecule is in exon 14.
94 . The method of claim 88 wherein the mutation in the RAF1 nucleic acid molecule is a T to C substitution at position 1294 of SEQ ID NO:1.
95 . The method of claim 88 wherein the mutation in the RAF1 nucleic acid molecule is a G to A substitution at position 1297 of SEQ ID NO: 1.
96 . The method of claim 88 wherein the mutation in the RAF1 nucleic acid molecule is a G to A substitution at position 1322 of SEQ ID NO: 1.
97 . The method of claim 69 wherein the mutation in the RAF1 polypeptide is at the carboxy-terminal domain.
98 . The method of claim 97 wherein the mutation in the RAF1 polypeptide is an S to T substitution at position 612 of SEQ ID NO:2.
99 . The method of claim 97 wherein the mutation in the RAF1 polypeptide is an L to V substitution at position 613 of SEQ ID NO:2.
100 . The method of claim 97 wherein the mutation in the RAF1 nucleic acid molecule is in exon 16.
101 . The method of claim 97 wherein the mutation in the RAF1 nucleic acid molecule is a T to A substitution at position 2227 of SEQ ID NO: 1.
102 . The method of claim 97 wherein the mutation in the RAF1 nucleic acid molecule is a C to G substitution at position 2230 of SEQ ID NO:1.
103 .- 126 . (canceled)Join the waitlist — get patent alerts
Track US2015017649A1 — get alerts on status changes and closely related new filings.
We store only your email — no account needed. See our privacy policy.