Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9210 | 27853;27854;27855 | chr2:178712202;178712201;178712200 | chr2:179576929;179576928;179576927 |
| N2AB | 8893 | 26902;26903;26904 | chr2:178712202;178712201;178712200 | chr2:179576929;179576928;179576927 |
| N2A | 7966 | 24121;24122;24123 | chr2:178712202;178712201;178712200 | chr2:179576929;179576928;179576927 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs759893948  |
0.48 | 0.159 | N | 0.181 | 0.131 | 0.187945064343 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.84E-05 | None | 0 | 8.91E-06 | 0 |
| Q/E | rs759893948 |
0.48 | 0.159 | N | 0.181 | 0.131 | 0.187945064343 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| Q/E | rs759893948 |
0.48 | 0.159 | N | 0.181 | 0.131 | 0.187945064343 | gnomAD-4.0.0 | 5.12763E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39481E-06 | 4.02414E-05 | 0 |
| Q/H | None | None | 0.003 | N | 0.127 | 0.081 | 0.112648838833 | gnomAD-4.0.0 | 4.79085E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29786E-06 | 0 | 0 |
| Q/K | rs759893948 |
0.177 | 0.002 | N | 0.095 | 0.136 | 0.112648838833 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/K | rs759893948 |
0.177 | 0.002 | N | 0.095 | 0.136 | 0.112648838833 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/K | rs759893948 |
0.177 | 0.002 | N | 0.095 | 0.136 | 0.112648838833 | gnomAD-4.0.0 | 3.84572E-06 | None | None | None | None | N | None | 3.38341E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39481E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1459 | likely_benign | 0.1413 | benign | -0.538 | Destabilizing | 0.051 | N | 0.266 | neutral | None | None | None | None | N |
| Q/C | 0.4658 | ambiguous | 0.4692 | ambiguous | 0.077 | Stabilizing | 0.968 | D | 0.451 | neutral | None | None | None | None | N |
| Q/D | 0.2352 | likely_benign | 0.2316 | benign | 0.045 | Stabilizing | 0.223 | N | 0.233 | neutral | None | None | None | None | N |
| Q/E | 0.075 | likely_benign | 0.0745 | benign | 0.108 | Stabilizing | 0.159 | N | 0.181 | neutral | N | 0.430855109 | None | None | N |
| Q/F | 0.49 | ambiguous | 0.4683 | ambiguous | -0.306 | Destabilizing | 0.908 | D | 0.544 | neutral | None | None | None | None | N |
| Q/G | 0.1814 | likely_benign | 0.1867 | benign | -0.848 | Destabilizing | 0.111 | N | 0.327 | neutral | None | None | None | None | N |
| Q/H | 0.1329 | likely_benign | 0.133 | benign | -0.549 | Destabilizing | 0.003 | N | 0.127 | neutral | N | 0.472915162 | None | None | N |
| Q/I | 0.2911 | likely_benign | 0.2774 | benign | 0.233 | Stabilizing | 0.738 | D | 0.561 | neutral | None | None | None | None | N |
| Q/K | 0.0756 | likely_benign | 0.0767 | benign | -0.149 | Destabilizing | 0.002 | N | 0.095 | neutral | N | 0.400820204 | None | None | N |
| Q/L | 0.1017 | likely_benign | 0.1 | benign | 0.233 | Stabilizing | 0.302 | N | 0.357 | neutral | N | 0.472048371 | None | None | N |
| Q/M | 0.2896 | likely_benign | 0.2733 | benign | 0.46 | Stabilizing | 0.968 | D | 0.339 | neutral | None | None | None | None | N |
| Q/N | 0.1754 | likely_benign | 0.1737 | benign | -0.566 | Destabilizing | 0.002 | N | 0.099 | neutral | None | None | None | None | N |
| Q/P | 0.059 | likely_benign | 0.0592 | benign | 0.007 | Stabilizing | 0.001 | N | 0.179 | neutral | N | 0.413885502 | None | None | N |
| Q/R | 0.0899 | likely_benign | 0.0906 | benign | -0.047 | Destabilizing | 0.001 | N | 0.094 | neutral | N | 0.423833136 | None | None | N |
| Q/S | 0.1622 | likely_benign | 0.1595 | benign | -0.681 | Destabilizing | 0.003 | N | 0.122 | neutral | None | None | None | None | N |
| Q/T | 0.1451 | likely_benign | 0.1383 | benign | -0.428 | Destabilizing | 0.111 | N | 0.315 | neutral | None | None | None | None | N |
| Q/V | 0.1961 | likely_benign | 0.1893 | benign | 0.007 | Stabilizing | 0.365 | N | 0.419 | neutral | None | None | None | None | N |
| Q/W | 0.3886 | ambiguous | 0.3756 | ambiguous | -0.187 | Destabilizing | 0.991 | D | 0.445 | neutral | None | None | None | None | N |
| Q/Y | 0.2962 | likely_benign | 0.2839 | benign | 0.017 | Stabilizing | 0.582 | D | 0.507 | 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.