Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16967 | 51124;51125;51126 | chr2:178611230;178611229;178611228 | chr2:179475957;179475956;179475955 |
| N2AB | 15326 | 46201;46202;46203 | chr2:178611230;178611229;178611228 | chr2:179475957;179475956;179475955 |
| N2A | 14399 | 43420;43421;43422 | chr2:178611230;178611229;178611228 | chr2:179475957;179475956;179475955 |
| N2B | 7902 | 23929;23930;23931 | chr2:178611230;178611229;178611228 | chr2:179475957;179475956;179475955 |
| Novex-1 | 8027 | 24304;24305;24306 | chr2:178611230;178611229;178611228 | chr2:179475957;179475956;179475955 |
| Novex-2 | 8094 | 24505;24506;24507 | chr2:178611230;178611229;178611228 | chr2:179475957;179475956;179475955 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs763447020  |
-0.557 | 0.801 | N | 0.399 | 0.284 | 0.651126778619 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| I/T | rs763447020 |
-0.557 | 0.801 | N | 0.399 | 0.284 | 0.651126778619 | gnomAD-4.0.0 | 4.10821E-06 | None | None | None | None | I | None | 2.99222E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69955E-06 | 1.15993E-05 | 1.65881E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.242 | likely_benign | 0.2353 | benign | -1.152 | Destabilizing | 0.525 | D | 0.379 | neutral | None | None | None | None | I |
| I/C | 0.7205 | likely_pathogenic | 0.6997 | pathogenic | -0.843 | Destabilizing | 0.998 | D | 0.411 | neutral | None | None | None | None | I |
| I/D | 0.7229 | likely_pathogenic | 0.6991 | pathogenic | -0.446 | Destabilizing | 0.991 | D | 0.476 | neutral | None | None | None | None | I |
| I/E | 0.5379 | ambiguous | 0.5086 | ambiguous | -0.487 | Destabilizing | 0.974 | D | 0.458 | neutral | None | None | None | None | I |
| I/F | 0.2049 | likely_benign | 0.1998 | benign | -0.806 | Destabilizing | 0.934 | D | 0.368 | neutral | N | 0.510879594 | None | None | I |
| I/G | 0.6564 | likely_pathogenic | 0.639 | pathogenic | -1.4 | Destabilizing | 0.915 | D | 0.47 | neutral | None | None | None | None | I |
| I/H | 0.557 | ambiguous | 0.5069 | ambiguous | -0.49 | Destabilizing | 0.998 | D | 0.467 | neutral | None | None | None | None | I |
| I/K | 0.304 | likely_benign | 0.274 | benign | -0.737 | Destabilizing | 0.974 | D | 0.46 | neutral | None | None | None | None | I |
| I/L | 0.1194 | likely_benign | 0.1186 | benign | -0.584 | Destabilizing | 0.136 | N | 0.241 | neutral | N | 0.481148813 | None | None | I |
| I/M | 0.1004 | likely_benign | 0.0946 | benign | -0.549 | Destabilizing | 0.966 | D | 0.409 | neutral | N | 0.508640785 | None | None | I |
| I/N | 0.3432 | ambiguous | 0.2988 | benign | -0.589 | Destabilizing | 0.989 | D | 0.472 | neutral | N | 0.502167825 | None | None | I |
| I/P | 0.579 | likely_pathogenic | 0.563 | ambiguous | -0.74 | Destabilizing | 0.991 | D | 0.475 | neutral | None | None | None | None | I |
| I/Q | 0.4039 | ambiguous | 0.3635 | ambiguous | -0.792 | Destabilizing | 0.991 | D | 0.469 | neutral | None | None | None | None | I |
| I/R | 0.2372 | likely_benign | 0.2144 | benign | -0.112 | Destabilizing | 0.974 | D | 0.468 | neutral | None | None | None | None | I |
| I/S | 0.3173 | likely_benign | 0.284 | benign | -1.156 | Destabilizing | 0.891 | D | 0.471 | neutral | N | 0.488580194 | None | None | I |
| I/T | 0.1191 | likely_benign | 0.115 | benign | -1.084 | Destabilizing | 0.801 | D | 0.399 | neutral | N | 0.488746398 | None | None | I |
| I/V | 0.0713 | likely_benign | 0.0746 | benign | -0.74 | Destabilizing | 0.002 | N | 0.205 | neutral | N | 0.435251546 | None | None | I |
| I/W | 0.7543 | likely_pathogenic | 0.7442 | pathogenic | -0.807 | Destabilizing | 0.998 | D | 0.501 | neutral | None | None | None | None | I |
| I/Y | 0.578 | likely_pathogenic | 0.541 | ambiguous | -0.595 | Destabilizing | 0.974 | D | 0.434 | neutral | None | None | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.