Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6336 | 19231;19232;19233 | chr2:178729032;178729031;178729030 | chr2:179593759;179593758;179593757 |
| N2AB | 6019 | 18280;18281;18282 | chr2:178729032;178729031;178729030 | chr2:179593759;179593758;179593757 |
| N2A | 5092 | 15499;15500;15501 | chr2:178729032;178729031;178729030 | chr2:179593759;179593758;179593757 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1416824072  |
0.098 | 0.012 | N | 0.195 | 0.05 | 0.0920862733494 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs1416824072 |
0.098 | 0.012 | N | 0.195 | 0.05 | 0.0920862733494 | 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 |
| D/E | rs1416824072 |
0.098 | 0.012 | N | 0.195 | 0.05 | 0.0920862733494 | gnomAD-4.0.0 | 6.57255E-06 | None | None | None | None | N | None | 2.41266E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs780149886 |
0.104 | 0.801 | N | 0.397 | 0.221 | 0.141422826196 | gnomAD-2.1.1 | 7.2E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.58E-05 | 0 |
| D/G | rs780149886 |
0.104 | 0.801 | N | 0.397 | 0.221 | 0.141422826196 | 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 |
| D/G | rs780149886 |
0.104 | 0.801 | N | 0.397 | 0.221 | 0.141422826196 | gnomAD-4.0.0 | 5.58031E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.63057E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.0905 | likely_benign | 0.0885 | benign | 0.059 | Stabilizing | 0.051 | N | 0.267 | neutral | N | 0.509696242 | None | None | N |
| D/C | 0.3276 | likely_benign | 0.2855 | benign | 0.128 | Stabilizing | 0.998 | D | 0.417 | neutral | None | None | None | None | N |
| D/E | 0.0917 | likely_benign | 0.0868 | benign | -0.214 | Destabilizing | 0.012 | N | 0.195 | neutral | N | 0.443028533 | None | None | N |
| D/F | 0.347 | ambiguous | 0.3184 | benign | -0.152 | Destabilizing | 0.991 | D | 0.39 | neutral | None | None | None | None | N |
| D/G | 0.0791 | likely_benign | 0.0743 | benign | -0.043 | Destabilizing | 0.801 | D | 0.397 | neutral | N | 0.486509951 | None | None | N |
| D/H | 0.1367 | likely_benign | 0.1256 | benign | 0.307 | Stabilizing | 0.991 | D | 0.337 | neutral | N | 0.484863186 | None | None | N |
| D/I | 0.1887 | likely_benign | 0.1749 | benign | 0.253 | Stabilizing | 0.974 | D | 0.419 | neutral | None | None | None | None | N |
| D/K | 0.1216 | likely_benign | 0.1069 | benign | 0.542 | Stabilizing | 0.728 | D | 0.362 | neutral | None | None | None | None | N |
| D/L | 0.2172 | likely_benign | 0.1946 | benign | 0.253 | Stabilizing | 0.842 | D | 0.425 | neutral | None | None | None | None | N |
| D/M | 0.3462 | ambiguous | 0.318 | benign | 0.194 | Stabilizing | 0.998 | D | 0.4 | neutral | None | None | None | None | N |
| D/N | 0.0725 | likely_benign | 0.0719 | benign | 0.452 | Stabilizing | 0.801 | D | 0.343 | neutral | N | 0.512120472 | None | None | N |
| D/P | 0.3189 | likely_benign | 0.2885 | benign | 0.207 | Stabilizing | 0.007 | N | 0.209 | neutral | None | None | None | None | N |
| D/Q | 0.1426 | likely_benign | 0.1284 | benign | 0.428 | Stabilizing | 0.904 | D | 0.297 | neutral | None | None | None | None | N |
| D/R | 0.1433 | likely_benign | 0.1255 | benign | 0.657 | Stabilizing | 0.949 | D | 0.403 | neutral | None | None | None | None | N |
| D/S | 0.0785 | likely_benign | 0.075 | benign | 0.332 | Stabilizing | 0.728 | D | 0.299 | neutral | None | None | None | None | N |
| D/T | 0.1275 | likely_benign | 0.1199 | benign | 0.409 | Stabilizing | 0.842 | D | 0.369 | neutral | None | None | None | None | N |
| D/V | 0.1294 | likely_benign | 0.1226 | benign | 0.207 | Stabilizing | 0.801 | D | 0.41 | neutral | N | 0.47203885 | None | None | N |
| D/W | 0.6617 | likely_pathogenic | 0.5987 | pathogenic | -0.149 | Destabilizing | 0.998 | D | 0.527 | neutral | None | None | None | None | N |
| D/Y | 0.1473 | likely_benign | 0.1341 | benign | 0.067 | Stabilizing | 0.989 | D | 0.39 | neutral | N | 0.481242335 | 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.