Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22801 | 68626;68627;68628 | chr2:178578114;178578113;178578112 | chr2:179442841;179442840;179442839 |
| N2AB | 21160 | 63703;63704;63705 | chr2:178578114;178578113;178578112 | chr2:179442841;179442840;179442839 |
| N2A | 20233 | 60922;60923;60924 | chr2:178578114;178578113;178578112 | chr2:179442841;179442840;179442839 |
| N2B | 13736 | 41431;41432;41433 | chr2:178578114;178578113;178578112 | chr2:179442841;179442840;179442839 |
| Novex-1 | 13861 | 41806;41807;41808 | chr2:178578114;178578113;178578112 | chr2:179442841;179442840;179442839 |
| Novex-2 | 13928 | 42007;42008;42009 | chr2:178578114;178578113;178578112 | chr2:179442841;179442840;179442839 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs1465137040  |
-1.389 | 0.117 | N | 0.453 | 0.172 | 0.377976839388 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| R/G | rs1465137040 |
-1.389 | 0.117 | N | 0.453 | 0.172 | 0.377976839388 | gnomAD-4.0.0 | 1.59241E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86049E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.3563 | ambiguous | 0.3712 | ambiguous | -0.995 | Destabilizing | 0.035 | N | 0.403 | neutral | None | None | None | None | N |
| R/C | 0.2205 | likely_benign | 0.2392 | benign | -0.885 | Destabilizing | 0.935 | D | 0.46 | neutral | None | None | None | None | N |
| R/D | 0.6957 | likely_pathogenic | 0.6954 | pathogenic | -0.557 | Destabilizing | 0.149 | N | 0.46 | neutral | None | None | None | None | N |
| R/E | 0.3398 | likely_benign | 0.3449 | ambiguous | -0.353 | Destabilizing | 0.035 | N | 0.416 | neutral | None | None | None | None | N |
| R/F | 0.7297 | likely_pathogenic | 0.7042 | pathogenic | -0.389 | Destabilizing | 0.791 | D | 0.475 | neutral | None | None | None | None | N |
| R/G | 0.2195 | likely_benign | 0.2298 | benign | -1.368 | Destabilizing | 0.117 | N | 0.453 | neutral | N | 0.466071958 | None | None | N |
| R/H | 0.1558 | likely_benign | 0.1584 | benign | -1.654 | Destabilizing | 0.555 | D | 0.541 | neutral | None | None | None | None | N |
| R/I | 0.454 | ambiguous | 0.4349 | ambiguous | 0.048 | Stabilizing | 0.484 | N | 0.489 | neutral | N | 0.504354711 | None | None | N |
| R/K | 0.0576 | likely_benign | 0.0546 | benign | -0.706 | Destabilizing | None | N | 0.223 | neutral | N | 0.433417333 | None | None | N |
| R/L | 0.2774 | likely_benign | 0.277 | benign | 0.048 | Stabilizing | 0.149 | N | 0.453 | neutral | None | None | None | None | N |
| R/M | 0.2615 | likely_benign | 0.2619 | benign | -0.495 | Destabilizing | 0.791 | D | 0.502 | neutral | None | None | None | None | N |
| R/N | 0.4788 | ambiguous | 0.4882 | ambiguous | -0.719 | Destabilizing | 0.149 | N | 0.427 | neutral | None | None | None | None | N |
| R/P | 0.4312 | ambiguous | 0.465 | ambiguous | -0.281 | Destabilizing | 0.262 | N | 0.488 | neutral | None | None | None | None | N |
| R/Q | 0.1078 | likely_benign | 0.1135 | benign | -0.611 | Destabilizing | 0.081 | N | 0.439 | neutral | None | None | None | None | N |
| R/S | 0.4475 | ambiguous | 0.4598 | ambiguous | -1.34 | Destabilizing | 0.027 | N | 0.417 | neutral | N | 0.46970342 | None | None | N |
| R/T | 0.1823 | likely_benign | 0.2026 | benign | -0.917 | Destabilizing | 0.117 | N | 0.426 | neutral | N | 0.332364904 | None | None | N |
| R/V | 0.4532 | ambiguous | 0.4399 | ambiguous | -0.281 | Destabilizing | 0.149 | N | 0.489 | neutral | None | None | None | None | N |
| R/W | 0.3244 | likely_benign | 0.3261 | benign | -0.072 | Destabilizing | 0.935 | D | 0.459 | neutral | None | None | None | None | N |
| R/Y | 0.5637 | ambiguous | 0.5521 | ambiguous | 0.134 | Stabilizing | 0.555 | D | 0.495 | 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.