Upload stxbp1_snv_variants_170_canonical.txt

stxbp1_snv_variants_170_canonical.txt

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+# STXBP1 pathogenic missense + nonsense variants for the canonical
+# (603-aa / NP_003156.1 / NM_003165.6) parameter sweep.
+#
+# Provenance:
+#   - Base list: 171 variants from the v1 sweep (NM_001032221.6, 594 aa).
+#   - Positions 1-575 are byte-identical between the 594-aa and 603-aa
+#     frames, so 169 of the 171 variants are valid on both frames
+#     without modification.
+#   - DROPPED: Q576X -- canonical[576] is T (Thr), not Q (Gln). This was a
+#     wrong-frame label; the variant is not valid under the 603-aa frame.
+#     If ClinVar has a true pathogenic variant at canonical T576, it would
+#     need to be seeded separately (e.g. as T576X or T576M).
+#   - RETAINED: E603D -- only valid on the 603-aa frame (594-aa ends at 594).
+#     v1 would have errored on this because c.1809 is past the 594-aa CDS.
+#
+# Columns: label   cdna_change   p.Long_form
+# Canonical build date: 2026-04-24
+# SHA-256 of canonical protein (pinned):
+#   f09d3d8cab1a46153031896bab6713a241b2eabd497cb2d354285d3a87756e6c
+M1R c.2T>G p.Met1Arg
+L6P c.17T>C p.Leu6Pro
+E27X c.79G>T p.Glu27Ter
+W28G c.82T>G p.Trp28Gly
+W28X c.83G>A p.Trp28Ter
+V30M c.88G>A p.Val30Met
+L31P c.92T>C p.Leu31Pro
+V33E c.98T>A p.Val33Glu
+Q35X c.103C>T p.Gln35Ter
+L36X c.107T>A p.Leu36Ter
+L36X c.107T>G p.Leu36Ter
+L41Q c.122T>A p.Leu41Gln
+L41R c.122T>G p.Leu41Arg
+S42P c.124T>C p.Ser42Pro
+S42Y c.125C>A p.Ser42Tyr
+K46E c.136A>G p.Lys46Glu
+E53X c.157G>T p.Glu53Ter
+I55T c.164T>C p.Ile55Thr
+T56R c.167C>G p.Thr56Arg
+E59K c.175G>A p.Glu59Lys
+Y75H c.223T>C p.Tyr75His
+Y75C c.224A>G p.Tyr75Cys
+Y75X c.225T>G p.Tyr75Ter
+P79L c.236C>T p.Pro79Leu
+E81X c.241G>T p.Glu81Ter
+V84D c.251T>A p.Val84Asp
+L87H c.260T>A p.Leu87His
+D90G c.269A>G p.Asp90Gly
+H103P c.308A>C p.His103Pro
+C110R c.328T>C p.Cys110Arg
+R122X c.364C>T p.Arg122Ter
+T129P c.385A>C p.Thr129Pro
+P139Q c.416C>A p.Pro139Gln
+P139L c.416C>T p.Pro139Leu
+Y140X c.420T>A p.Tyr140Ter
+Y145H c.433T>C p.Tyr145His
+Y145C c.434A>G p.Tyr145Cys
+L179H c.536T>A p.Leu179His
+C180Y c.539G>A p.Cys180Tyr
+E185G c.554A>G p.Glu185Gly
+P187L c.560C>T p.Pro187Leu
+R190W c.568C>T p.Arg190Trp
+G193A c.578G>C p.Gly193Ala
+G193V c.578G>T p.Gly193Val
+K196X c.586A>T p.Lys196Ter
+Q203X c.607C>T p.Gln203Ter
+Q206X c.616C>T p.Gln206Ter
+D207G c.620A>G p.Asp207Gly
+Y212X c.636T>A p.Tyr212Ter
+Y212X c.636T>G p.Tyr212Ter
+Q229X c.685C>T p.Gln229Ter
+I232N c.695T>A p.Ile232Asn
+D234G c.701A>G p.Asp234Gly
+R235X c.703C>T p.Arg235Ter
+R235Q c.704G>A p.Arg235Gln
+G236D c.707G>A p.Gly236Asp
+G236V c.707G>T p.Gly236Val
+D238H c.712G>C p.Asp238His
+S241T c.721T>A p.Ser241Thr
+S241Y c.722C>A p.Ser241Tyr
+H245N c.733C>A p.His245Asn
+H245D c.733C>G p.His245Asp
+H245R c.734A>G p.His245Arg
+Q250E c.748C>G p.Gln250Glu
+Q250X c.748C>T p.Gln250Ter
+Q250R c.749A>G p.Gln250Arg
+A251P c.751G>C p.Ala251Pro
+M252V c.754A>G p.Met252Val
+M252T c.755T>C p.Met252Thr
+L256P c.767T>C p.Leu256Pro
+D262Y c.784G>T p.Asp262Tyr
+D262V c.785A>T p.Asp262Val
+Y264X c.792C>A p.Tyr264Ter
+Y266X c.798T>G p.Tyr266Ter
+E273X c.817G>T p.Glu273Ter
+L281P c.842T>C p.Leu281Pro
+E283K c.847G>A p.Glu283Lys
+L287P c.860T>C p.Leu287Pro
+W288R c.862T>C p.Trp288Arg
+W288X c.863G>A p.Trp288Ter
+L291P c.872T>C p.Leu291Pro
+R292C c.874C>T p.Arg292Cys
+R292H c.875G>A p.Arg292His
+R292P c.875G>C p.Arg292Pro
+R292L c.875G>T p.Arg292Leu
+H293Y c.877C>T p.His293Tyr
+A297S c.889G>T p.Ala297Ser
+E302X c.904G>T p.Glu302Ter
+P335S c.1003C>T p.Pro335Ser
+Q336X c.1006C>T p.Gln336Ter
+Y337X c.1011C>G p.Tyr337Ter
+Q338X c.1012C>T p.Gln338Ter
+E340X c.1018G>T p.Glu340Ter
+L341P c.1022T>C p.Leu341Pro
+H347D c.1039C>G p.His347Asp
+L348P c.1043T>C p.Leu348Pro
+C354R c.1060T>C p.Cys354Arg
+C354G c.1060T>G p.Cys354Gly
+C354Y c.1061G>A p.Cys354Tyr
+Y358X c.1074C>A p.Tyr358Ter
+Y358X c.1074C>G p.Tyr358Ter
+Q359X c.1075C>T p.Gln359Ter
+T361I c.1082C>T p.Thr361Ile
+R367X c.1099C>T p.Arg367Ter
+E369K c.1105G>A p.Glu369Lys
+Q370X c.1108C>T p.Gln370Ter
+R388X c.1162C>T p.Arg388Ter
+R406S c.1218G>T p.Arg406Ser
+R406G c.1216C>G p.Arg406Gly
+R406C c.1216C>T p.Arg406Cys
+R406H c.1217G>A p.Arg406His
+R406L c.1217G>T p.Arg406Leu
+G417R c.1249G>C p.Gly417Arg
+I418F c.1252A>T p.Ile418Phe
+E420X c.1258G>T p.Glu420Ter
+E421X c.1261G>T p.Glu421Ter
+L426P c.1277T>C p.Leu426Pro
+L426R c.1277T>G p.Leu426Arg
+Q428X c.1282C>T p.Gln428Ter
+I439F c.1315A>T p.Ile439Phe
+I439N c.1316T>A p.Ile439Asn
+M443R c.1328T>G p.Met443Arg
+L446F c.1336C>T p.Leu446Phe
+R464G c.1390C>G p.Arg464Gly
+E470X c.1408G>T p.Glu470Ter
+Y473X c.1419C>A p.Tyr473Ter
+S476X c.1427C>A p.Ser476Ter
+S476X c.1427C>G p.Ser476Ter
+W478X c.1433G>A p.Trp478Ter
+P480S c.1438C>T p.Pro480Ser
+P480L c.1439C>T p.Pro480Leu
+I485N c.1454T>A p.Ile485Asn
+I485T c.1454T>C p.Ile485Thr
+M486T c.1457T>C p.Met486Thr
+M486R c.1457T>G p.Met486Arg
+E487D c.1461G>C p.Glu487Asp
+Y501X c.1503T>A p.Tyr501Ter
+A517S c.1549G>T p.Ala517Ser
+Y519X c.1557T>A p.Tyr519Ter
+Y519X c.1557T>G p.Tyr519Ter
+W522X c.1565G>A p.Trp522Ter
+K524X c.1570A>T p.Lys524Ter
+E530X c.1588G>T p.Glu530Ter
+Y531X c.1593C>A p.Tyr531Ter
+Y531X c.1593C>G p.Tyr531Ter
+G543R c.1627G>C p.Gly543Arg
+G543E c.1628G>A p.Gly543Glu
+G544R c.1630G>C p.Gly544Arg
+G544C c.1630G>T p.Gly544Cys
+G544D c.1631G>A p.Gly544Asp
+G544V c.1631G>T p.Gly544Val
+N548D c.1642A>G p.Asn548Asp
+R551S c.1653G>T p.Arg551Ser
+R551C c.1651C>T p.Arg551Cys
+R551H c.1652G>A p.Arg551His
+R551P c.1652G>C p.Arg551Pro
+R551L c.1652G>T p.Arg551Leu
+C552R c.1654T>C p.Cys552Arg
+C552Y c.1655G>A p.Cys552Tyr
+C552X c.1656C>A p.Cys552Ter
+A553P c.1657G>C p.Ala553Pro
+Y554S c.1661A>C p.Tyr554Ser
+Y554X c.1662C>G p.Tyr554Ter
+Q558X c.1672C>T p.Gln558Ter
+W563X c.1688G>A p.Trp563Ter
+G568R c.1702G>C p.Gly568Arg
+T570A c.1708A>G p.Thr570Ala
+E603D c.1809G>T p.Glu603Asp
+S569F c.1706C>T p.Ser569Phe
+T570I c.1709C>T p.Thr570Ile
+
+# --- Dropped in canonical rebuild (kept here for audit trail) ---
+# Q576X c.1726C>T p.Gln576Ter    # S97: dropped. Canonical[576]=T (Thr), not Q. 594-aa frame artifact.