Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7994 | 24205;24206;24207 | chr2:178719410;178719409;178719408 | chr2:179584137;179584136;179584135 |
| N2AB | 7677 | 23254;23255;23256 | chr2:178719410;178719409;178719408 | chr2:179584137;179584136;179584135 |
| N2A | 6750 | 20473;20474;20475 | chr2:178719410;178719409;178719408 | chr2:179584137;179584136;179584135 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/E | None | None | 0.033 | N | 0.383 | 0.341 | 0.290222751274 | gnomAD-4.0.0 | 1.59218E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86102E-06 | 0 | 0 |
| V/L | rs779653609  |
-0.213 | None | N | 0.047 | 0.169 | 0.0920862733494 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/L | rs779653609 |
-0.213 | None | N | 0.047 | 0.169 | 0.0920862733494 | gnomAD-4.0.0 | 6.84442E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15955E-05 | 0 |
| V/M | rs779653609 |
-0.301 | 0.003 | N | 0.124 | 0.157 | 0.101711395817 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 5.8E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/M | rs779653609 |
-0.301 | 0.003 | N | 0.124 | 0.157 | 0.101711395817 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs779653609 |
-0.301 | 0.003 | N | 0.124 | 0.157 | 0.101711395817 | gnomAD-4.0.0 | 4.33947E-06 | None | None | None | None | I | None | 1.33572E-05 | 3.335E-05 | None | 0 | 0 | None | 0 | 0 | 1.6959E-06 | 1.09818E-05 | 1.60123E-05 |
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 | 0.0792 | likely_benign | 0.0846 | benign | -1.176 | Destabilizing | 0.003 | N | 0.22 | neutral | N | 0.498757756 | None | None | I |
| V/C | 0.4697 | ambiguous | 0.4622 | ambiguous | -0.881 | Destabilizing | None | N | 0.212 | neutral | None | None | None | None | I |
| V/D | 0.1782 | likely_benign | 0.1849 | benign | -0.986 | Destabilizing | 0.044 | N | 0.487 | neutral | None | None | None | None | I |
| V/E | 0.1394 | likely_benign | 0.1452 | benign | -1.043 | Destabilizing | 0.033 | N | 0.383 | neutral | N | 0.498096862 | None | None | I |
| V/F | 0.113 | likely_benign | 0.1167 | benign | -1.134 | Destabilizing | 0.022 | N | 0.395 | neutral | None | None | None | None | I |
| V/G | 0.1035 | likely_benign | 0.1138 | benign | -1.427 | Destabilizing | 0.014 | N | 0.404 | neutral | N | 0.506237163 | None | None | I |
| V/H | 0.2569 | likely_benign | 0.266 | benign | -1.019 | Destabilizing | 0.497 | N | 0.381 | neutral | None | None | None | None | I |
| V/I | 0.0656 | likely_benign | 0.0682 | benign | -0.617 | Destabilizing | None | N | 0.051 | neutral | None | None | None | None | I |
| V/K | 0.1196 | likely_benign | 0.1251 | benign | -1.04 | Destabilizing | 0.044 | N | 0.405 | neutral | None | None | None | None | I |
| V/L | 0.1088 | likely_benign | 0.1142 | benign | -0.617 | Destabilizing | None | N | 0.047 | neutral | N | 0.47805441 | None | None | I |
| V/M | 0.0677 | likely_benign | 0.0734 | benign | -0.461 | Destabilizing | 0.003 | N | 0.124 | neutral | N | 0.499528548 | None | None | I |
| V/N | 0.1012 | likely_benign | 0.1086 | benign | -0.75 | Destabilizing | 0.044 | N | 0.505 | neutral | None | None | None | None | I |
| V/P | 0.5395 | ambiguous | 0.5475 | ambiguous | -0.767 | Destabilizing | 0.085 | N | 0.488 | neutral | None | None | None | None | I |
| V/Q | 0.124 | likely_benign | 0.1312 | benign | -0.966 | Destabilizing | 0.085 | N | 0.47 | neutral | None | None | None | None | I |
| V/R | 0.11 | likely_benign | 0.1094 | benign | -0.486 | Destabilizing | 0.044 | N | 0.521 | neutral | None | None | None | None | I |
| V/S | 0.0867 | likely_benign | 0.0929 | benign | -1.193 | Destabilizing | 0.009 | N | 0.289 | neutral | None | None | None | None | I |
| V/T | 0.0602 | likely_benign | 0.0629 | benign | -1.137 | Destabilizing | None | N | 0.056 | neutral | None | None | None | None | I |
| V/W | 0.4916 | ambiguous | 0.4909 | ambiguous | -1.261 | Destabilizing | 0.788 | D | 0.37 | neutral | None | None | None | None | I |
| V/Y | 0.2732 | likely_benign | 0.2792 | benign | -0.975 | Destabilizing | 0.085 | N | 0.428 | 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.