Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8027 | 24304;24305;24306 | chr2:178719311;178719310;178719309 | chr2:179584038;179584037;179584036 |
| N2AB | 7710 | 23353;23354;23355 | chr2:178719311;178719310;178719309 | chr2:179584038;179584037;179584036 |
| N2A | 6783 | 20572;20573;20574 | chr2:178719311;178719310;178719309 | chr2:179584038;179584037;179584036 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.011 | N | 0.185 | 0.153 | 0.261217442401 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/R | rs1229192464  |
0.008 | 0.984 | D | 0.415 | 0.4 | 0.445614145163 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs1229192464 |
0.008 | 0.984 | D | 0.415 | 0.4 | 0.445614145163 | gnomAD-4.0.0 | 3.18242E-06 | None | None | None | None | I | None | 0 | 4.57268E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | None | None | 0.946 | N | 0.371 | 0.306 | 0.335661160332 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 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 | 0.0747 | likely_benign | 0.0732 | benign | -0.221 | Destabilizing | 0.702 | D | 0.363 | neutral | None | None | None | None | I |
| S/C | 0.1146 | likely_benign | 0.1331 | benign | -0.245 | Destabilizing | 0.999 | D | 0.481 | neutral | D | 0.539012179 | None | None | I |
| S/D | 0.2262 | likely_benign | 0.3032 | benign | 0.014 | Stabilizing | 0.034 | N | 0.228 | neutral | None | None | None | None | I |
| S/E | 0.3085 | likely_benign | 0.4207 | ambiguous | -0.1 | Destabilizing | 0.851 | D | 0.334 | neutral | None | None | None | None | I |
| S/F | 0.1624 | likely_benign | 0.1618 | benign | -0.962 | Destabilizing | 0.996 | D | 0.555 | neutral | None | None | None | None | I |
| S/G | 0.0799 | likely_benign | 0.0984 | benign | -0.267 | Destabilizing | 0.011 | N | 0.185 | neutral | N | 0.487964643 | None | None | I |
| S/H | 0.2031 | likely_benign | 0.3062 | benign | -0.723 | Destabilizing | 0.999 | D | 0.441 | neutral | None | None | None | None | I |
| S/I | 0.142 | likely_benign | 0.1659 | benign | -0.229 | Destabilizing | 0.995 | D | 0.544 | neutral | N | 0.492915394 | None | None | I |
| S/K | 0.3664 | ambiguous | 0.5413 | ambiguous | -0.382 | Destabilizing | 0.959 | D | 0.337 | neutral | None | None | None | None | I |
| S/L | 0.0882 | likely_benign | 0.0853 | benign | -0.229 | Destabilizing | 0.988 | D | 0.466 | neutral | None | None | None | None | I |
| S/M | 0.1838 | likely_benign | 0.2052 | benign | -0.038 | Destabilizing | 0.999 | D | 0.474 | neutral | None | None | None | None | I |
| S/N | 0.1132 | likely_benign | 0.1516 | benign | -0.086 | Destabilizing | 0.896 | D | 0.385 | neutral | N | 0.517746162 | None | None | I |
| S/P | 0.0904 | likely_benign | 0.0852 | benign | -0.202 | Destabilizing | 0.996 | D | 0.414 | neutral | None | None | None | None | I |
| S/Q | 0.298 | likely_benign | 0.4358 | ambiguous | -0.345 | Destabilizing | 0.988 | D | 0.349 | neutral | None | None | None | None | I |
| S/R | 0.279 | likely_benign | 0.4395 | ambiguous | -0.168 | Destabilizing | 0.984 | D | 0.415 | neutral | D | 0.523576056 | None | None | I |
| S/T | 0.0776 | likely_benign | 0.0802 | benign | -0.197 | Destabilizing | 0.946 | D | 0.371 | neutral | N | 0.493157149 | None | None | I |
| S/V | 0.1545 | likely_benign | 0.1696 | benign | -0.202 | Destabilizing | 0.988 | D | 0.493 | neutral | None | None | None | None | I |
| S/W | 0.2125 | likely_benign | 0.2417 | benign | -1.025 | Destabilizing | 0.999 | D | 0.632 | neutral | None | None | None | None | I |
| S/Y | 0.1439 | likely_benign | 0.1559 | benign | -0.719 | Destabilizing | 0.996 | D | 0.549 | neutral | None | None | 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.