Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14632 | 44119;44120;44121 | chr2:178631154;178631153;178631152 | chr2:179495881;179495880;179495879 |
| N2AB | 12991 | 39196;39197;39198 | chr2:178631154;178631153;178631152 | chr2:179495881;179495880;179495879 |
| N2A | 12064 | 36415;36416;36417 | chr2:178631154;178631153;178631152 | chr2:179495881;179495880;179495879 |
| N2B | 5567 | 16924;16925;16926 | chr2:178631154;178631153;178631152 | chr2:179495881;179495880;179495879 |
| Novex-1 | 5692 | 17299;17300;17301 | chr2:178631154;178631153;178631152 | chr2:179495881;179495880;179495879 |
| Novex-2 | 5759 | 17500;17501;17502 | chr2:178631154;178631153;178631152 | chr2:179495881;179495880;179495879 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs750807748  |
-1.473 | None | N | 0.137 | 0.108 | 0.247322355667 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| V/A | rs750807748 |
-1.473 | None | N | 0.137 | 0.108 | 0.247322355667 | gnomAD-4.0.0 | 1.36877E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79918E-06 | 0 | 0 |
| V/I | rs1456607091 |
None | None | N | 0.137 | 0.075 | 0.17258766438 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1456607091 |
None | None | N | 0.137 | 0.075 | 0.17258766438 | gnomAD-4.0.0 | 6.57531E-06 | None | None | None | None | N | None | 0 | 6.5548E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1151 | likely_benign | 0.1345 | benign | -1.792 | Destabilizing | None | N | 0.137 | neutral | N | 0.492234887 | None | None | N |
| V/C | 0.7082 | likely_pathogenic | 0.7357 | pathogenic | -1.311 | Destabilizing | 0.356 | N | 0.395 | neutral | None | None | None | None | N |
| V/D | 0.2137 | likely_benign | 0.2472 | benign | -1.762 | Destabilizing | 0.055 | N | 0.439 | neutral | N | 0.477117877 | None | None | N |
| V/E | 0.183 | likely_benign | 0.2041 | benign | -1.677 | Destabilizing | 0.038 | N | 0.379 | neutral | None | None | None | None | N |
| V/F | 0.1278 | likely_benign | 0.1337 | benign | -1.22 | Destabilizing | 0.055 | N | 0.455 | neutral | N | 0.504024701 | None | None | N |
| V/G | 0.1956 | likely_benign | 0.2261 | benign | -2.206 | Highly Destabilizing | 0.029 | N | 0.413 | neutral | N | 0.497438056 | None | None | N |
| V/H | 0.4678 | ambiguous | 0.4884 | ambiguous | -1.832 | Destabilizing | 0.356 | N | 0.441 | neutral | None | None | None | None | N |
| V/I | 0.0676 | likely_benign | 0.0661 | benign | -0.708 | Destabilizing | None | N | 0.137 | neutral | N | 0.48601087 | None | None | N |
| V/K | 0.2519 | likely_benign | 0.3029 | benign | -1.498 | Destabilizing | 0.038 | N | 0.391 | neutral | None | None | None | None | N |
| V/L | 0.1282 | likely_benign | 0.1351 | benign | -0.708 | Destabilizing | None | N | 0.115 | neutral | N | 0.448236627 | None | None | N |
| V/M | 0.1154 | likely_benign | 0.1142 | benign | -0.604 | Destabilizing | 0.214 | N | 0.394 | neutral | None | None | None | None | N |
| V/N | 0.1629 | likely_benign | 0.1835 | benign | -1.449 | Destabilizing | 0.214 | N | 0.485 | neutral | None | None | None | None | N |
| V/P | 0.6983 | likely_pathogenic | 0.7919 | pathogenic | -1.037 | Destabilizing | 0.214 | N | 0.452 | neutral | None | None | None | None | N |
| V/Q | 0.2489 | likely_benign | 0.27 | benign | -1.493 | Destabilizing | 0.003 | N | 0.279 | neutral | None | None | None | None | N |
| V/R | 0.2422 | likely_benign | 0.2906 | benign | -1.12 | Destabilizing | 0.072 | N | 0.477 | neutral | None | None | None | None | N |
| V/S | 0.1415 | likely_benign | 0.1609 | benign | -2.066 | Highly Destabilizing | 0.016 | N | 0.343 | neutral | None | None | None | None | N |
| V/T | 0.1317 | likely_benign | 0.1415 | benign | -1.858 | Destabilizing | 0.001 | N | 0.137 | neutral | None | None | None | None | N |
| V/W | 0.7732 | likely_pathogenic | 0.7802 | pathogenic | -1.542 | Destabilizing | 0.864 | D | 0.459 | neutral | None | None | None | None | N |
| V/Y | 0.4278 | ambiguous | 0.4711 | ambiguous | -1.216 | Destabilizing | 0.356 | N | 0.428 | 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.