Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7186 | 21781;21782;21783 | chr2:178723544;178723543;178723542 | chr2:179588271;179588270;179588269 |
| N2AB | 6869 | 20830;20831;20832 | chr2:178723544;178723543;178723542 | chr2:179588271;179588270;179588269 |
| N2A | 5942 | 18049;18050;18051 | chr2:178723544;178723543;178723542 | chr2:179588271;179588270;179588269 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs560240166  |
-0.187 | 0.975 | N | 0.393 | 0.377 | 0.665462309537 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| Y/C | rs560240166 |
-0.187 | 0.975 | N | 0.393 | 0.377 | 0.665462309537 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/C | rs560240166 |
-0.187 | 0.975 | N | 0.393 | 0.377 | 0.665462309537 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| Y/C | rs560240166 |
-0.187 | 0.975 | N | 0.393 | 0.377 | 0.665462309537 | gnomAD-4.0.0 | 1.23957E-05 | None | None | None | None | N | None | 0 | 3.33489E-05 | None | 0 | 0 | None | 0 | 0 | 1.44116E-05 | 1.09835E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.249 | likely_benign | 0.2437 | benign | -0.921 | Destabilizing | 0.176 | N | 0.278 | neutral | None | None | None | None | N |
| Y/C | 0.1006 | likely_benign | 0.106 | benign | 0.173 | Stabilizing | 0.975 | D | 0.393 | neutral | N | 0.518300735 | None | None | N |
| Y/D | 0.1553 | likely_benign | 0.1566 | benign | 0.515 | Stabilizing | 0.642 | D | 0.487 | neutral | N | 0.44195475 | None | None | N |
| Y/E | 0.4678 | ambiguous | 0.4615 | ambiguous | 0.504 | Stabilizing | 0.543 | D | 0.423 | neutral | None | None | None | None | N |
| Y/F | 0.1022 | likely_benign | 0.0966 | benign | -0.446 | Destabilizing | 0.642 | D | 0.328 | neutral | N | 0.465602401 | None | None | N |
| Y/G | 0.2644 | likely_benign | 0.2655 | benign | -1.141 | Destabilizing | 0.543 | D | 0.431 | neutral | None | None | None | None | N |
| Y/H | 0.1179 | likely_benign | 0.1111 | benign | -0.043 | Destabilizing | 0.975 | D | 0.369 | neutral | N | 0.455481408 | None | None | N |
| Y/I | 0.2613 | likely_benign | 0.2486 | benign | -0.34 | Destabilizing | 0.031 | N | 0.187 | neutral | None | None | None | None | N |
| Y/K | 0.4319 | ambiguous | 0.4187 | ambiguous | 0.035 | Stabilizing | 0.007 | N | 0.241 | neutral | None | None | None | None | N |
| Y/L | 0.2853 | likely_benign | 0.2783 | benign | -0.34 | Destabilizing | 0.003 | N | 0.15 | neutral | None | None | None | None | N |
| Y/M | 0.5019 | ambiguous | 0.4872 | ambiguous | -0.128 | Destabilizing | 0.893 | D | 0.397 | neutral | None | None | None | None | N |
| Y/N | 0.1003 | likely_benign | 0.097 | benign | -0.083 | Destabilizing | 0.642 | D | 0.479 | neutral | N | 0.455481408 | None | None | N |
| Y/P | 0.7959 | likely_pathogenic | 0.8005 | pathogenic | -0.516 | Destabilizing | 0.944 | D | 0.481 | neutral | None | None | None | None | N |
| Y/Q | 0.3318 | likely_benign | 0.3267 | benign | -0.071 | Destabilizing | 0.893 | D | 0.458 | neutral | None | None | None | None | N |
| Y/R | 0.243 | likely_benign | 0.2368 | benign | 0.331 | Stabilizing | 0.543 | D | 0.473 | neutral | None | None | None | None | N |
| Y/S | 0.0799 | likely_benign | 0.0782 | benign | -0.478 | Destabilizing | 0.01 | N | 0.207 | neutral | N | 0.338539594 | None | None | N |
| Y/T | 0.1906 | likely_benign | 0.1817 | benign | -0.397 | Destabilizing | 0.329 | N | 0.369 | neutral | None | None | None | None | N |
| Y/V | 0.2194 | likely_benign | 0.2085 | benign | -0.516 | Destabilizing | 0.013 | N | 0.159 | neutral | None | None | None | None | N |
| Y/W | 0.4173 | ambiguous | 0.4008 | ambiguous | -0.49 | Destabilizing | 0.995 | D | 0.383 | neutral | None | None | None | None | N |
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.