Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29559 | 88900;88901;88902 | chr2:178554672;178554671;178554670 | chr2:179419399;179419398;179419397 |
| N2AB | 27918 | 83977;83978;83979 | chr2:178554672;178554671;178554670 | chr2:179419399;179419398;179419397 |
| N2A | 26991 | 81196;81197;81198 | chr2:178554672;178554671;178554670 | chr2:179419399;179419398;179419397 |
| N2B | 20494 | 61705;61706;61707 | chr2:178554672;178554671;178554670 | chr2:179419399;179419398;179419397 |
| Novex-1 | 20619 | 62080;62081;62082 | chr2:178554672;178554671;178554670 | chr2:179419399;179419398;179419397 |
| Novex-2 | 20686 | 62281;62282;62283 | chr2:178554672;178554671;178554670 | chr2:179419399;179419398;179419397 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs748038054  |
0.062 | 0.484 | N | 0.331 | 0.136 | 0.166414681773 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| A/P | rs748038054 |
0.062 | 0.484 | N | 0.331 | 0.136 | 0.166414681773 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/P | rs748038054 |
0.062 | 0.484 | N | 0.331 | 0.136 | 0.166414681773 | gnomAD-4.0.0 | 1.67303E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.20364E-05 | 0 | 1.60092E-05 |
| A/T | rs748038054 |
None | None | N | 0.105 | 0.061 | 0.0846915920261 | gnomAD-4.0.0 | 3.42081E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.4971E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3321 | likely_benign | 0.3123 | benign | -0.665 | Destabilizing | 0.824 | D | 0.323 | neutral | None | None | None | None | N |
| A/D | 0.14 | likely_benign | 0.1356 | benign | -0.534 | Destabilizing | 0.001 | N | 0.257 | neutral | N | 0.472997228 | None | None | N |
| A/E | 0.1207 | likely_benign | 0.1244 | benign | -0.7 | Destabilizing | 0.001 | N | 0.206 | neutral | None | None | None | None | N |
| A/F | 0.2281 | likely_benign | 0.2234 | benign | -0.916 | Destabilizing | 0.38 | N | 0.403 | neutral | None | None | None | None | N |
| A/G | 0.1243 | likely_benign | 0.1233 | benign | -0.159 | Destabilizing | 0.062 | N | 0.271 | neutral | N | 0.486601244 | None | None | N |
| A/H | 0.2846 | likely_benign | 0.2724 | benign | -0.271 | Destabilizing | 0.824 | D | 0.383 | neutral | None | None | None | None | N |
| A/I | 0.1248 | likely_benign | 0.1228 | benign | -0.325 | Destabilizing | 0.029 | N | 0.354 | neutral | None | None | None | None | N |
| A/K | 0.1956 | likely_benign | 0.1957 | benign | -0.486 | Destabilizing | 0.081 | N | 0.349 | neutral | None | None | None | None | N |
| A/L | 0.1003 | likely_benign | 0.0946 | benign | -0.325 | Destabilizing | 0.081 | N | 0.329 | neutral | None | None | None | None | N |
| A/M | 0.1394 | likely_benign | 0.1361 | benign | -0.367 | Destabilizing | 0.698 | D | 0.303 | neutral | None | None | None | None | N |
| A/N | 0.1545 | likely_benign | 0.1467 | benign | -0.131 | Destabilizing | 0.38 | N | 0.395 | neutral | None | None | None | None | N |
| A/P | 0.1429 | likely_benign | 0.1691 | benign | -0.238 | Destabilizing | 0.484 | N | 0.331 | neutral | N | 0.477672329 | None | None | N |
| A/Q | 0.1782 | likely_benign | 0.1781 | benign | -0.433 | Destabilizing | 0.235 | N | 0.337 | neutral | None | None | None | None | N |
| A/R | 0.1977 | likely_benign | 0.2 | benign | -0.043 | Destabilizing | 0.38 | N | 0.336 | neutral | None | None | None | None | N |
| A/S | 0.0862 | likely_benign | 0.0826 | benign | -0.277 | Destabilizing | 0.002 | N | 0.157 | neutral | N | 0.470130281 | None | None | N |
| A/T | 0.0711 | likely_benign | 0.0696 | benign | -0.375 | Destabilizing | None | N | 0.105 | neutral | N | 0.450563086 | None | None | N |
| A/V | 0.081 | likely_benign | 0.0811 | benign | -0.238 | Destabilizing | 0.001 | N | 0.158 | neutral | N | 0.474845455 | None | None | N |
| A/W | 0.51 | ambiguous | 0.4981 | ambiguous | -1.042 | Destabilizing | 0.935 | D | 0.516 | neutral | None | None | None | None | N |
| A/Y | 0.3055 | likely_benign | 0.2869 | benign | -0.693 | Destabilizing | 0.555 | D | 0.398 | 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.