Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21213 | 63862;63863;63864 | chr2:178587672;178587671;178587670 | chr2:179452399;179452398;179452397 |
| N2AB | 19572 | 58939;58940;58941 | chr2:178587672;178587671;178587670 | chr2:179452399;179452398;179452397 |
| N2A | 18645 | 56158;56159;56160 | chr2:178587672;178587671;178587670 | chr2:179452399;179452398;179452397 |
| N2B | 12148 | 36667;36668;36669 | chr2:178587672;178587671;178587670 | chr2:179452399;179452398;179452397 |
| Novex-1 | 12273 | 37042;37043;37044 | chr2:178587672;178587671;178587670 | chr2:179452399;179452398;179452397 |
| Novex-2 | 12340 | 37243;37244;37245 | chr2:178587672;178587671;178587670 | chr2:179452399;179452398;179452397 |
| 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/M | None | None | 0.81 | N | 0.411 | 0.107 | 0.504541157375 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/T | None | None | 0.549 | N | 0.359 | 0.281 | 0.687538048876 | gnomAD-4.0.0 | 1.59312E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86076E-06 | 0 | 0 |
| I/V | rs2049329163  |
None | 0.007 | N | 0.204 | 0.063 | 0.485776496936 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs2049329163 |
None | 0.007 | N | 0.204 | 0.063 | 0.485776496936 | gnomAD-4.0.0 | 6.57834E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47124E-05 | 0 | 0 |
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 | 0.2674 | likely_benign | 0.2867 | benign | -0.598 | Destabilizing | 0.4 | N | 0.375 | neutral | None | None | None | None | I |
| I/C | 0.6351 | likely_pathogenic | 0.6451 | pathogenic | -0.575 | Destabilizing | 0.992 | D | 0.399 | neutral | None | None | None | None | I |
| I/D | 0.6246 | likely_pathogenic | 0.6169 | pathogenic | -0.349 | Destabilizing | 0.972 | D | 0.457 | neutral | None | None | None | None | I |
| I/E | 0.4585 | ambiguous | 0.441 | ambiguous | -0.446 | Destabilizing | 0.92 | D | 0.449 | neutral | None | None | None | None | I |
| I/F | 0.1998 | likely_benign | 0.206 | benign | -0.66 | Destabilizing | 0.681 | D | 0.343 | neutral | N | 0.486199762 | None | None | I |
| I/G | 0.578 | likely_pathogenic | 0.5746 | pathogenic | -0.754 | Destabilizing | 0.92 | D | 0.427 | neutral | None | None | None | None | I |
| I/H | 0.5044 | ambiguous | 0.4976 | ambiguous | -0.115 | Destabilizing | 0.992 | D | 0.468 | neutral | None | None | None | None | I |
| I/K | 0.3571 | ambiguous | 0.3281 | benign | -0.406 | Destabilizing | 0.92 | D | 0.445 | neutral | None | None | None | None | I |
| I/L | 0.132 | likely_benign | 0.1333 | benign | -0.311 | Destabilizing | 0.002 | N | 0.197 | neutral | N | 0.507083664 | None | None | I |
| I/M | 0.0953 | likely_benign | 0.0991 | benign | -0.391 | Destabilizing | 0.81 | D | 0.411 | neutral | N | 0.489017978 | None | None | I |
| I/N | 0.2605 | likely_benign | 0.2461 | benign | -0.162 | Destabilizing | 0.963 | D | 0.453 | neutral | N | 0.502157847 | None | None | I |
| I/P | 0.7698 | likely_pathogenic | 0.7809 | pathogenic | -0.374 | Destabilizing | 0.972 | D | 0.454 | neutral | None | None | None | None | I |
| I/Q | 0.3791 | ambiguous | 0.3545 | ambiguous | -0.397 | Destabilizing | 0.972 | D | 0.456 | neutral | None | None | None | None | I |
| I/R | 0.3065 | likely_benign | 0.2869 | benign | 0.147 | Stabilizing | 0.92 | D | 0.456 | neutral | None | None | None | None | I |
| I/S | 0.2547 | likely_benign | 0.2563 | benign | -0.562 | Destabilizing | 0.896 | D | 0.407 | neutral | N | 0.482606507 | None | None | I |
| I/T | 0.1446 | likely_benign | 0.1648 | benign | -0.554 | Destabilizing | 0.549 | D | 0.359 | neutral | N | 0.506390231 | None | None | I |
| I/V | 0.0771 | likely_benign | 0.0804 | benign | -0.374 | Destabilizing | 0.007 | N | 0.204 | neutral | N | 0.443072258 | None | None | I |
| I/W | 0.7155 | likely_pathogenic | 0.7428 | pathogenic | -0.691 | Destabilizing | 0.992 | D | 0.547 | neutral | None | None | None | None | I |
| I/Y | 0.5506 | ambiguous | 0.541 | ambiguous | -0.44 | Destabilizing | 0.92 | D | 0.381 | 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.