Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20438 | 61537;61538;61539 | chr2:178590413;178590412;178590411 | chr2:179455140;179455139;179455138 |
| N2AB | 18797 | 56614;56615;56616 | chr2:178590413;178590412;178590411 | chr2:179455140;179455139;179455138 |
| N2A | 17870 | 53833;53834;53835 | chr2:178590413;178590412;178590411 | chr2:179455140;179455139;179455138 |
| N2B | 11373 | 34342;34343;34344 | chr2:178590413;178590412;178590411 | chr2:179455140;179455139;179455138 |
| Novex-1 | 11498 | 34717;34718;34719 | chr2:178590413;178590412;178590411 | chr2:179455140;179455139;179455138 |
| Novex-2 | 11565 | 34918;34919;34920 | chr2:178590413;178590412;178590411 | chr2:179455140;179455139;179455138 |
| 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/N | rs756962314  |
-0.4 | 0.016 | N | 0.229 | 0.16 | 0.403328974453 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.64E-05 | None | 0 | None | 0 | 0 | 0 |
| I/N | rs756962314 |
-0.4 | 0.016 | N | 0.229 | 0.16 | 0.403328974453 | gnomAD-4.0.0 | 6.86211E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52653E-05 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs756962314 |
-0.901 | 0.028 | N | 0.121 | 0.199 | None | gnomAD-2.1.1 | 2.05E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.64E-05 | None | 6.85E-05 | None | 0 | 1.81E-05 | 0 |
| I/T | rs756962314 |
-0.901 | 0.028 | N | 0.121 | 0.199 | None | gnomAD-4.0.0 | 8.92074E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.57959E-05 | None | 0 | 0 | 3.60305E-06 | 7.05318E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.147 | likely_benign | 0.14 | benign | -1.254 | Destabilizing | 0.737 | D | 0.343 | neutral | None | None | None | None | N |
| I/C | 0.5725 | likely_pathogenic | 0.5491 | ambiguous | -0.86 | Destabilizing | 0.998 | D | 0.341 | neutral | None | None | None | None | N |
| I/D | 0.4873 | ambiguous | 0.4199 | ambiguous | -0.426 | Destabilizing | 0.584 | D | 0.356 | neutral | None | None | None | None | N |
| I/E | 0.29 | likely_benign | 0.2529 | benign | -0.434 | Destabilizing | 0.037 | N | 0.171 | neutral | None | None | None | None | N |
| I/F | 0.1536 | likely_benign | 0.1437 | benign | -0.837 | Destabilizing | 0.991 | D | 0.288 | neutral | N | 0.494545936 | None | None | N |
| I/G | 0.4394 | ambiguous | 0.424 | ambiguous | -1.54 | Destabilizing | 0.872 | D | 0.384 | neutral | None | None | None | None | N |
| I/H | 0.3194 | likely_benign | 0.2915 | benign | -0.592 | Destabilizing | 0.98 | D | 0.381 | neutral | None | None | None | None | N |
| I/K | 0.2098 | likely_benign | 0.1734 | benign | -0.731 | Destabilizing | 0.872 | D | 0.385 | neutral | None | None | None | None | N |
| I/L | 0.0909 | likely_benign | 0.0839 | benign | -0.564 | Destabilizing | 0.48 | N | 0.204 | neutral | N | 0.474399951 | None | None | N |
| I/M | 0.0785 | likely_benign | 0.0762 | benign | -0.561 | Destabilizing | 0.991 | D | 0.309 | neutral | N | 0.494545936 | None | None | N |
| I/N | 0.18 | likely_benign | 0.1604 | benign | -0.6 | Destabilizing | 0.016 | N | 0.229 | neutral | N | 0.449330935 | None | None | N |
| I/P | 0.5992 | likely_pathogenic | 0.5261 | ambiguous | -0.761 | Destabilizing | 0.993 | D | 0.418 | neutral | None | None | None | None | N |
| I/Q | 0.2038 | likely_benign | 0.1859 | benign | -0.749 | Destabilizing | 0.872 | D | 0.4 | neutral | None | None | None | None | N |
| I/R | 0.1633 | likely_benign | 0.1334 | benign | -0.16 | Destabilizing | 0.872 | D | 0.405 | neutral | None | None | None | None | N |
| I/S | 0.1546 | likely_benign | 0.1375 | benign | -1.221 | Destabilizing | 0.514 | D | 0.339 | neutral | N | 0.465145749 | None | None | N |
| I/T | 0.0804 | likely_benign | 0.0746 | benign | -1.103 | Destabilizing | 0.028 | N | 0.121 | neutral | N | 0.403942575 | None | None | N |
| I/V | 0.0745 | likely_benign | 0.0746 | benign | -0.761 | Destabilizing | 0.48 | N | 0.198 | neutral | N | 0.45535283 | None | None | N |
| I/W | 0.6195 | likely_pathogenic | 0.5945 | pathogenic | -0.858 | Destabilizing | 0.998 | D | 0.393 | neutral | None | None | None | None | N |
| I/Y | 0.4359 | ambiguous | 0.3973 | ambiguous | -0.633 | Destabilizing | 0.993 | D | 0.347 | 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.