Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35938 | 108037;108038;108039 | chr2:178527176;178527175;178527174 | chr2:179391903;179391902;179391901 |
| N2AB | 34297 | 103114;103115;103116 | chr2:178527176;178527175;178527174 | chr2:179391903;179391902;179391901 |
| N2A | 33370 | 100333;100334;100335 | chr2:178527176;178527175;178527174 | chr2:179391903;179391902;179391901 |
| N2B | 26873 | 80842;80843;80844 | chr2:178527176;178527175;178527174 | chr2:179391903;179391902;179391901 |
| Novex-1 | 26998 | 81217;81218;81219 | chr2:178527176;178527175;178527174 | chr2:179391903;179391902;179391901 |
| Novex-2 | 27065 | 81418;81419;81420 | chr2:178527176;178527175;178527174 | chr2:179391903;179391902;179391901 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/R | rs1233232821  |
-0.379 | 0.001 | N | 0.171 | 0.085 | 0.16115917748 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | -1.157(OBSL1) -1.572(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| H/R | rs1233232821 |
-0.379 | 0.001 | N | 0.171 | 0.085 | 0.16115917748 | gnomAD-4.0.0 | 1.59089E-06 | None | None | None | -1.157(OBSL1) -1.572(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85752E-06 | 0 | 0 |
| H/Y | None | None | 0.013 | N | 0.249 | 0.084 | 0.235664433957 | gnomAD-4.0.0 | 1.59091E-06 | None | None | None | -0.042(OBSL1) -0.181(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85755E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.1124 | likely_benign | 0.1222 | benign | 0.295 | Stabilizing | None | N | 0.191 | neutral | None | None | None | -0.928(OBSL1) -0.583(OBSCN) | N |
| H/C | 0.1055 | likely_benign | 0.1077 | benign | 0.581 | Stabilizing | 0.316 | N | 0.409 | neutral | None | None | None | -1.445(OBSL1) -0.63(OBSCN) | N |
| H/D | 0.082 | likely_benign | 0.0868 | benign | -0.056 | Destabilizing | 0.001 | N | 0.29 | neutral | N | 0.425025215 | None | -1.058(OBSL1) -0.713(OBSCN) | N |
| H/E | 0.0994 | likely_benign | 0.1123 | benign | -0.033 | Destabilizing | 0.001 | N | 0.195 | neutral | None | None | None | -1.096(OBSL1) -0.761(OBSCN) | N |
| H/F | 0.2126 | likely_benign | 0.2123 | benign | 0.977 | Stabilizing | 0.004 | N | 0.417 | neutral | None | None | None | -0.201(OBSL1) -0.198(OBSCN) | N |
| H/G | 0.1189 | likely_benign | 0.1273 | benign | 0.03 | Stabilizing | 0.001 | N | 0.335 | neutral | None | None | None | -0.939(OBSL1) -0.509(OBSCN) | N |
| H/I | 0.1509 | likely_benign | 0.1579 | benign | 0.966 | Stabilizing | 0.002 | N | 0.367 | neutral | None | None | None | -0.925(OBSL1) -0.804(OBSCN) | N |
| H/K | 0.1072 | likely_benign | 0.1131 | benign | 0.214 | Stabilizing | 0.001 | N | 0.295 | neutral | None | None | None | -1.253(OBSL1) -0.729(OBSCN) | N |
| H/L | 0.0771 | likely_benign | 0.0787 | benign | 0.966 | Stabilizing | None | N | 0.175 | neutral | N | 0.421696908 | None | -0.925(OBSL1) -0.804(OBSCN) | N |
| H/M | 0.2642 | likely_benign | 0.2755 | benign | 0.659 | Stabilizing | 0.021 | N | 0.47 | neutral | None | None | None | -1.308(OBSL1) -0.775(OBSCN) | N |
| H/N | 0.063 | likely_benign | 0.0637 | benign | 0.126 | Stabilizing | 0.003 | N | 0.176 | neutral | N | 0.41898189 | None | -0.79(OBSL1) -0.578(OBSCN) | N |
| H/P | 0.0807 | likely_benign | 0.0887 | benign | 0.767 | Stabilizing | None | N | 0.145 | neutral | N | 0.350316813 | None | -0.92(OBSL1) -0.731(OBSCN) | N |
| H/Q | 0.0711 | likely_benign | 0.0746 | benign | 0.23 | Stabilizing | None | N | 0.101 | neutral | N | 0.425235859 | None | -0.946(OBSL1) -0.533(OBSCN) | N |
| H/R | 0.0625 | likely_benign | 0.0646 | benign | -0.332 | Destabilizing | 0.001 | N | 0.171 | neutral | N | 0.428756167 | None | -1.157(OBSL1) -1.572(OBSCN) | N |
| H/S | 0.0907 | likely_benign | 0.0962 | benign | 0.216 | Stabilizing | None | N | 0.153 | neutral | None | None | None | -0.915(OBSL1) -0.21(OBSCN) | N |
| H/T | 0.1043 | likely_benign | 0.1136 | benign | 0.339 | Stabilizing | None | N | 0.143 | neutral | None | None | None | -0.946(OBSL1) -0.27(OBSCN) | N |
| H/V | 0.1251 | likely_benign | 0.1318 | benign | 0.767 | Stabilizing | 0.001 | N | 0.343 | neutral | None | None | None | -0.92(OBSL1) -0.731(OBSCN) | N |
| H/W | 0.2418 | likely_benign | 0.2453 | benign | 0.957 | Stabilizing | 0.316 | N | 0.373 | neutral | None | None | None | -0.022(OBSL1) -0.046(OBSCN) | N |
| H/Y | 0.0843 | likely_benign | 0.0834 | benign | 1.204 | Stabilizing | 0.013 | N | 0.249 | neutral | N | 0.46046594 | None | -0.042(OBSL1) -0.181(OBSCN) | 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.