Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8894 | 26905;26906;26907 | chr2:178713978;178713977;178713976 | chr2:179578705;179578704;179578703 |
| N2AB | 8577 | 25954;25955;25956 | chr2:178713978;178713977;178713976 | chr2:179578705;179578704;179578703 |
| N2A | 7650 | 23173;23174;23175 | chr2:178713978;178713977;178713976 | chr2:179578705;179578704;179578703 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs13398235  |
-0.058 | 0.066 | N | 0.251 | 0.156 | None | gnomAD-2.1.1 | 7.73921E-02 | None | None | None | None | N | None | 1.52777E-01 | 1.89708E-01 | None | 4.07808E-02 | 2.8946E-02 | None | 1.67201E-01 | None | 5.70628E-02 | 2.62172E-02 | 5.85181E-02 |
| P/L | rs13398235 |
-0.058 | 0.066 | N | 0.251 | 0.156 | None | gnomAD-3.1.2 | 7.94563E-02 | None | None | None | None | N | None | 1.52098E-01 | 1.45151E-01 | 4.28571E-02 | 3.57555E-02 | 2.62346E-02 | None | 5.84514E-02 | 4.74684E-02 | 2.51735E-02 | 1.62375E-01 | 6.89655E-02 |
| P/L | rs13398235 |
-0.058 | 0.066 | N | 0.251 | 0.156 | None | 1000 genomes | 1.11422E-01 | None | None | None | None | N | None | 1.649E-01 | 1.527E-01 | None | None | 2.58E-02 | 3.58E-02 | None | None | None | 1.759E-01 | None |
| P/L | rs13398235 |
-0.058 | 0.066 | N | 0.251 | 0.156 | None | gnomAD-4.0.0 | 4.72529E-02 | None | None | None | None | N | None | 1.55864E-01 | 1.77094E-01 | None | 3.94959E-02 | 1.50529E-02 | None | 5.88907E-02 | 4.19142E-02 | 2.56292E-02 | 1.59453E-01 | 5.26341E-02 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0642 | likely_benign | 0.0607 | benign | -0.359 | Destabilizing | 0.625 | D | 0.272 | neutral | N | 0.438353432 | None | None | N |
| P/C | 0.3991 | ambiguous | 0.4158 | ambiguous | -0.591 | Destabilizing | 0.998 | D | 0.359 | neutral | None | None | None | None | N |
| P/D | 0.2407 | likely_benign | 0.2642 | benign | -0.106 | Destabilizing | 0.842 | D | 0.307 | neutral | None | None | None | None | N |
| P/E | 0.1596 | likely_benign | 0.1694 | benign | -0.231 | Destabilizing | 0.728 | D | 0.277 | neutral | None | None | None | None | N |
| P/F | 0.2543 | likely_benign | 0.2825 | benign | -0.697 | Destabilizing | 0.949 | D | 0.382 | neutral | None | None | None | None | N |
| P/G | 0.1853 | likely_benign | 0.1912 | benign | -0.465 | Destabilizing | 0.842 | D | 0.321 | neutral | None | None | None | None | N |
| P/H | 0.1192 | likely_benign | 0.1236 | benign | -0.118 | Destabilizing | 0.998 | D | 0.327 | neutral | None | None | None | None | N |
| P/I | 0.1619 | likely_benign | 0.1665 | benign | -0.237 | Destabilizing | 0.067 | N | 0.263 | neutral | None | None | None | None | N |
| P/K | 0.142 | likely_benign | 0.1314 | benign | -0.254 | Destabilizing | 0.007 | N | 0.161 | neutral | None | None | None | None | N |
| P/L | 0.0768 | likely_benign | 0.0823 | benign | -0.237 | Destabilizing | 0.066 | N | 0.251 | neutral | N | 0.382364076 | None | None | N |
| P/M | 0.1775 | likely_benign | 0.179 | benign | -0.267 | Destabilizing | 0.949 | D | 0.328 | neutral | None | None | None | None | N |
| P/N | 0.176 | likely_benign | 0.1857 | benign | -0.01 | Destabilizing | 0.949 | D | 0.365 | neutral | None | None | None | None | N |
| P/Q | 0.0972 | likely_benign | 0.0946 | benign | -0.26 | Destabilizing | 0.973 | D | 0.322 | neutral | N | 0.464443955 | None | None | N |
| P/R | 0.1008 | likely_benign | 0.0964 | benign | 0.214 | Stabilizing | 0.837 | D | 0.339 | neutral | N | 0.421767826 | None | None | N |
| P/S | 0.0827 | likely_benign | 0.0828 | benign | -0.372 | Destabilizing | 0.669 | D | 0.254 | neutral | N | 0.436622636 | None | None | N |
| P/T | 0.0787 | likely_benign | 0.0797 | benign | -0.395 | Destabilizing | 0.051 | N | 0.177 | neutral | N | 0.438508147 | None | None | N |
| P/V | 0.1189 | likely_benign | 0.1269 | benign | -0.244 | Destabilizing | 0.525 | D | 0.294 | neutral | None | None | None | None | N |
| P/W | 0.394 | ambiguous | 0.4351 | ambiguous | -0.772 | Destabilizing | 0.998 | D | 0.393 | neutral | None | None | None | None | N |
| P/Y | 0.2354 | likely_benign | 0.2603 | benign | -0.448 | Destabilizing | 0.974 | D | 0.37 | 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.