Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 971 | 3136;3137;3138 | chr2:178782995;178782994;178782993 | chr2:179647722;179647721;179647720 |
| N2AB | 971 | 3136;3137;3138 | chr2:178782995;178782994;178782993 | chr2:179647722;179647721;179647720 |
| N2A | 971 | 3136;3137;3138 | chr2:178782995;178782994;178782993 | chr2:179647722;179647721;179647720 |
| N2B | 925 | 2998;2999;3000 | chr2:178782995;178782994;178782993 | chr2:179647722;179647721;179647720 |
| Novex-1 | 925 | 2998;2999;3000 | chr2:178782995;178782994;178782993 | chr2:179647722;179647721;179647720 |
| Novex-2 | 925 | 2998;2999;3000 | chr2:178782995;178782994;178782993 | chr2:179647722;179647721;179647720 |
| Novex-3 | 971 | 3136;3137;3138 | chr2:178782995;178782994;178782993 | chr2:179647722;179647721;179647720 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | None | None | 0.487 | N | 0.543 | 0.271 | 0.532359089423 | gnomAD-4.0.0 | 1.59055E-06 | None | None | None | None | I | None | 0 | 0 | None | 4.76554E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0773 | likely_benign | 0.0733 | benign | -0.586 | Destabilizing | 0.003 | N | 0.1 | neutral | N | 0.47194436 | None | None | I |
| S/C | 0.2312 | likely_benign | 0.2296 | benign | -0.429 | Destabilizing | 0.004 | N | 0.262 | neutral | D | 0.545873227 | None | None | I |
| S/D | 0.3892 | ambiguous | 0.3911 | ambiguous | 0.597 | Stabilizing | 0.264 | N | 0.188 | neutral | None | None | None | None | I |
| S/E | 0.3794 | ambiguous | 0.3807 | ambiguous | 0.541 | Stabilizing | 0.01 | N | 0.172 | neutral | None | None | None | None | I |
| S/F | 0.2296 | likely_benign | 0.2346 | benign | -1.119 | Destabilizing | 0.487 | N | 0.543 | neutral | N | 0.492079699 | None | None | I |
| S/G | 0.1693 | likely_benign | 0.1647 | benign | -0.724 | Destabilizing | 0.228 | N | 0.205 | neutral | None | None | None | None | I |
| S/H | 0.3383 | likely_benign | 0.3276 | benign | -1.04 | Destabilizing | 0.836 | D | 0.471 | neutral | None | None | None | None | I |
| S/I | 0.1639 | likely_benign | 0.1578 | benign | -0.345 | Destabilizing | 0.264 | N | 0.48 | neutral | None | None | None | None | I |
| S/K | 0.5009 | ambiguous | 0.4901 | ambiguous | -0.345 | Destabilizing | 0.129 | N | 0.195 | neutral | None | None | None | None | I |
| S/L | 0.1007 | likely_benign | 0.0933 | benign | -0.345 | Destabilizing | 0.002 | N | 0.217 | neutral | None | None | None | None | I |
| S/M | 0.2198 | likely_benign | 0.2097 | benign | -0.303 | Destabilizing | 0.716 | D | 0.466 | neutral | None | None | None | None | I |
| S/N | 0.1661 | likely_benign | 0.1568 | benign | -0.192 | Destabilizing | 0.418 | N | 0.247 | neutral | None | None | None | None | I |
| S/P | 0.1289 | likely_benign | 0.1279 | benign | -0.396 | Destabilizing | 0.002 | N | 0.215 | neutral | N | 0.402515489 | None | None | I |
| S/Q | 0.3949 | ambiguous | 0.3778 | ambiguous | -0.319 | Destabilizing | 0.01 | N | 0.167 | neutral | None | None | None | None | I |
| S/R | 0.4295 | ambiguous | 0.4322 | ambiguous | -0.207 | Destabilizing | 0.264 | N | 0.482 | neutral | None | None | None | None | I |
| S/T | 0.097 | likely_benign | 0.0909 | benign | -0.326 | Destabilizing | 0.003 | N | 0.104 | neutral | N | 0.45985407 | None | None | I |
| S/V | 0.1574 | likely_benign | 0.1499 | benign | -0.396 | Destabilizing | 0.129 | N | 0.43 | neutral | None | None | None | None | I |
| S/W | 0.4403 | ambiguous | 0.4682 | ambiguous | -1.117 | Destabilizing | 0.983 | D | 0.513 | neutral | None | None | None | None | I |
| S/Y | 0.2112 | likely_benign | 0.2174 | benign | -0.827 | Destabilizing | 0.794 | D | 0.532 | neutral | N | 0.502320989 | 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.