Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35291 | 106096;106097;106098 | chr2:178530744;178530743;178530742 | chr2:179395471;179395470;179395469 |
| N2AB | 33650 | 101173;101174;101175 | chr2:178530744;178530743;178530742 | chr2:179395471;179395470;179395469 |
| N2A | 32723 | 98392;98393;98394 | chr2:178530744;178530743;178530742 | chr2:179395471;179395470;179395469 |
| N2B | 26226 | 78901;78902;78903 | chr2:178530744;178530743;178530742 | chr2:179395471;179395470;179395469 |
| Novex-1 | 26351 | 79276;79277;79278 | chr2:178530744;178530743;178530742 | chr2:179395471;179395470;179395469 |
| Novex-2 | 26418 | 79477;79478;79479 | chr2:178530744;178530743;178530742 | chr2:179395471;179395470;179395469 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs761215198  |
None | 0.001 | N | 0.167 | 0.051 | 0.128392430309 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs761215198 |
None | 0.001 | N | 0.167 | 0.051 | 0.128392430309 | gnomAD-4.0.0 | 2.56216E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.84825E-05 | None | 0 | 0 | 0 | 0 | 0 |
| F/V | rs761215198 |
-0.482 | 0.001 | N | 0.267 | 0.065 | 0.128392430309 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/V | rs761215198 |
-0.482 | 0.001 | N | 0.267 | 0.065 | 0.128392430309 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/V | rs761215198 |
-0.482 | 0.001 | N | 0.267 | 0.065 | 0.128392430309 | gnomAD-4.0.0 | 6.40589E-06 | None | None | None | None | N | None | 0 | 8.47458E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.0803 | likely_benign | 0.0891 | benign | -1.298 | Destabilizing | None | N | 0.235 | neutral | None | None | None | None | N |
| F/C | 0.0859 | likely_benign | 0.0983 | benign | -0.551 | Destabilizing | 0.043 | N | 0.428 | neutral | N | 0.425453132 | None | None | N |
| F/D | 0.1413 | likely_benign | 0.1739 | benign | 0.681 | Stabilizing | None | N | 0.259 | neutral | None | None | None | None | N |
| F/E | 0.2125 | likely_benign | 0.2476 | benign | 0.694 | Stabilizing | None | N | 0.255 | neutral | None | None | None | None | N |
| F/G | 0.1608 | likely_benign | 0.1886 | benign | -1.537 | Destabilizing | None | N | 0.249 | neutral | None | None | None | None | N |
| F/H | 0.1504 | likely_benign | 0.1701 | benign | 0.014 | Stabilizing | None | N | 0.165 | neutral | None | None | None | None | N |
| F/I | 0.0561 | likely_benign | 0.0569 | benign | -0.65 | Destabilizing | 0.003 | N | 0.265 | neutral | N | 0.40573122 | None | None | N |
| F/K | 0.2218 | likely_benign | 0.259 | benign | -0.355 | Destabilizing | None | N | 0.258 | neutral | None | None | None | None | N |
| F/L | 0.2706 | likely_benign | 0.3078 | benign | -0.65 | Destabilizing | 0.001 | N | 0.167 | neutral | N | 0.410768894 | None | None | N |
| F/M | 0.1479 | likely_benign | 0.1586 | benign | -0.527 | Destabilizing | 0.056 | N | 0.369 | neutral | None | None | None | None | N |
| F/N | 0.0837 | likely_benign | 0.0931 | benign | -0.307 | Destabilizing | None | N | 0.205 | neutral | None | None | None | None | N |
| F/P | 0.1769 | likely_benign | 0.2793 | benign | -0.849 | Destabilizing | None | N | 0.207 | neutral | None | None | None | None | N |
| F/Q | 0.1786 | likely_benign | 0.2096 | benign | -0.351 | Destabilizing | None | N | 0.201 | neutral | None | None | None | None | N |
| F/R | 0.1804 | likely_benign | 0.2122 | benign | 0.153 | Stabilizing | 0.001 | N | 0.315 | neutral | None | None | None | None | N |
| F/S | 0.0561 | likely_benign | 0.06 | benign | -1.09 | Destabilizing | None | N | 0.157 | neutral | N | 0.349107146 | None | None | N |
| F/T | 0.075 | likely_benign | 0.0784 | benign | -0.985 | Destabilizing | None | N | 0.24 | neutral | None | None | None | None | N |
| F/V | 0.0554 | likely_benign | 0.0566 | benign | -0.849 | Destabilizing | 0.001 | N | 0.267 | neutral | N | 0.359766857 | None | None | N |
| F/W | 0.26 | likely_benign | 0.2942 | benign | -0.183 | Destabilizing | 0.152 | N | 0.383 | neutral | None | None | None | None | N |
| F/Y | 0.0846 | likely_benign | 0.0895 | benign | -0.263 | Destabilizing | 0.001 | N | 0.249 | neutral | N | 0.443172101 | 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.