Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20021 | 60286;60287;60288 | chr2:178591758;178591757;178591756 | chr2:179456485;179456484;179456483 |
| N2AB | 18380 | 55363;55364;55365 | chr2:178591758;178591757;178591756 | chr2:179456485;179456484;179456483 |
| N2A | 17453 | 52582;52583;52584 | chr2:178591758;178591757;178591756 | chr2:179456485;179456484;179456483 |
| N2B | 10956 | 33091;33092;33093 | chr2:178591758;178591757;178591756 | chr2:179456485;179456484;179456483 |
| Novex-1 | 11081 | 33466;33467;33468 | chr2:178591758;178591757;178591756 | chr2:179456485;179456484;179456483 |
| Novex-2 | 11148 | 33667;33668;33669 | chr2:178591758;178591757;178591756 | chr2:179456485;179456484;179456483 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs760706351  |
-0.158 | 0.012 | N | 0.356 | 0.209 | 0.246215685461 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.61458E-04 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs760706351 |
-0.158 | 0.012 | N | 0.356 | 0.209 | 0.246215685461 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94175E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs760706351 |
-0.158 | 0.012 | N | 0.356 | 0.209 | 0.246215685461 | gnomAD-4.0.0 | 4.3394E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.34126E-04 | None | 0 | 0 | 8.47785E-07 | 0 | 0 |
| T/N | rs760706351 |
-0.386 | 0.029 | N | 0.244 | 0.06 | 0.188950314367 | 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 |
| T/N | rs760706351 |
-0.386 | 0.029 | N | 0.244 | 0.06 | 0.188950314367 | gnomAD-4.0.0 | 6.84379E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99611E-07 | 0 | 0 |
| T/S | rs1374902089 |
-0.613 | 0.005 | N | 0.261 | 0.047 | 0.0806252709748 | 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 |
| T/S | rs1374902089 |
-0.613 | 0.005 | N | 0.261 | 0.047 | 0.0806252709748 | gnomAD-4.0.0 | 1.59217E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85968E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.075 | likely_benign | 0.0653 | benign | -0.319 | Destabilizing | None | N | 0.125 | neutral | N | 0.442402175 | None | None | N |
| T/C | 0.3283 | likely_benign | 0.3108 | benign | -0.185 | Destabilizing | 0.356 | N | 0.37 | neutral | None | None | None | None | N |
| T/D | 0.2269 | likely_benign | 0.2019 | benign | -0.053 | Destabilizing | None | N | 0.159 | neutral | None | None | None | None | N |
| T/E | 0.1713 | likely_benign | 0.1505 | benign | -0.141 | Destabilizing | None | N | 0.136 | neutral | None | None | None | None | N |
| T/F | 0.213 | likely_benign | 0.1915 | benign | -0.823 | Destabilizing | 0.356 | N | 0.415 | neutral | None | None | None | None | N |
| T/G | 0.1532 | likely_benign | 0.1407 | benign | -0.438 | Destabilizing | 0.016 | N | 0.318 | neutral | None | None | None | None | N |
| T/H | 0.1881 | likely_benign | 0.1811 | benign | -0.78 | Destabilizing | 0.356 | N | 0.404 | neutral | None | None | None | None | N |
| T/I | 0.1539 | likely_benign | 0.1314 | benign | -0.123 | Destabilizing | 0.012 | N | 0.356 | neutral | N | 0.487658933 | None | None | N |
| T/K | 0.1082 | likely_benign | 0.1041 | benign | -0.399 | Destabilizing | 0.031 | N | 0.343 | neutral | None | None | None | None | N |
| T/L | 0.0845 | likely_benign | 0.0798 | benign | -0.123 | Destabilizing | 0.016 | N | 0.391 | neutral | None | None | None | None | N |
| T/M | 0.0992 | likely_benign | 0.0823 | benign | 0.129 | Stabilizing | 0.356 | N | 0.371 | neutral | None | None | None | None | N |
| T/N | 0.0817 | likely_benign | 0.0747 | benign | -0.125 | Destabilizing | 0.029 | N | 0.244 | neutral | N | 0.462372016 | None | None | N |
| T/P | 0.2601 | likely_benign | 0.2174 | benign | -0.16 | Destabilizing | 0.055 | N | 0.328 | neutral | N | 0.468337983 | None | None | N |
| T/Q | 0.1312 | likely_benign | 0.1208 | benign | -0.408 | Destabilizing | 0.072 | N | 0.327 | neutral | None | None | None | None | N |
| T/R | 0.1168 | likely_benign | 0.1081 | benign | -0.092 | Destabilizing | 0.072 | N | 0.343 | neutral | None | None | None | None | N |
| T/S | 0.0785 | likely_benign | 0.0731 | benign | -0.303 | Destabilizing | 0.005 | N | 0.261 | neutral | N | 0.419983889 | None | None | N |
| T/V | 0.1225 | likely_benign | 0.1066 | benign | -0.16 | Destabilizing | None | N | 0.131 | neutral | None | None | None | None | N |
| T/W | 0.519 | ambiguous | 0.4925 | ambiguous | -0.829 | Destabilizing | 0.864 | D | 0.408 | neutral | None | None | None | None | N |
| T/Y | 0.2444 | likely_benign | 0.2236 | benign | -0.552 | Destabilizing | 0.356 | N | 0.422 | 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.