Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4647 | 14164;14165;14166 | chr2:178739294;178739293;178739292 | chr2:179604021;179604020;179604019 |
| N2AB | 4330 | 13213;13214;13215 | chr2:178739294;178739293;178739292 | chr2:179604021;179604020;179604019 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4284 | 13075;13076;13077 | chr2:178739294;178739293;178739292 | chr2:179604021;179604020;179604019 |
| Novex-1 | 4409 | 13450;13451;13452 | chr2:178739294;178739293;178739292 | chr2:179604021;179604020;179604019 |
| Novex-2 | 4476 | 13651;13652;13653 | chr2:178739294;178739293;178739292 | chr2:179604021;179604020;179604019 |
| 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/G | rs781348816  |
-0.588 | None | N | 0.199 | 0.129 | None | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.91E-05 | 0 |
| D/G | rs781348816 |
-0.588 | None | N | 0.199 | 0.129 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/G | rs781348816 |
-0.588 | None | N | 0.199 | 0.129 | None | gnomAD-4.0.0 | 1.17786E-05 | None | None | None | None | I | None | 1.33447E-04 | 0 | None | 0 | 0 | None | 0 | 3.29164E-04 | 5.9352E-06 | 0 | 0 |
| D/N | rs2082068479 |
None | 0.324 | N | 0.298 | 0.135 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs2082068479 |
None | 0.324 | N | 0.298 | 0.135 | None | gnomAD-4.0.0 | 1.23994E-06 | None | None | None | None | I | None | 1.33515E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47919E-07 | 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 | 0.1624 | likely_benign | 0.1548 | benign | -0.575 | Destabilizing | 0.09 | N | 0.331 | neutral | N | 0.455520477 | None | None | I |
| D/C | 0.4759 | ambiguous | 0.4632 | ambiguous | -0.236 | Destabilizing | 0.981 | D | 0.4 | neutral | None | None | None | None | I |
| D/E | 0.2272 | likely_benign | 0.2232 | benign | -0.39 | Destabilizing | 0.286 | N | 0.298 | neutral | N | 0.454681886 | None | None | I |
| D/F | 0.5502 | ambiguous | 0.5369 | ambiguous | -0.143 | Destabilizing | 0.932 | D | 0.379 | neutral | None | None | None | None | I |
| D/G | 0.1068 | likely_benign | 0.107 | benign | -0.854 | Destabilizing | None | N | 0.199 | neutral | N | 0.400805281 | None | None | I |
| D/H | 0.2127 | likely_benign | 0.2035 | benign | -0.111 | Destabilizing | 0.912 | D | 0.282 | neutral | N | 0.493427178 | None | None | I |
| D/I | 0.436 | ambiguous | 0.4299 | ambiguous | 0.145 | Stabilizing | 0.818 | D | 0.392 | neutral | None | None | None | None | I |
| D/K | 0.3006 | likely_benign | 0.2922 | benign | -0.03 | Destabilizing | 0.388 | N | 0.319 | neutral | None | None | None | None | I |
| D/L | 0.3541 | ambiguous | 0.3486 | ambiguous | 0.145 | Stabilizing | 0.818 | D | 0.406 | neutral | None | None | None | None | I |
| D/M | 0.6017 | likely_pathogenic | 0.5887 | pathogenic | 0.374 | Stabilizing | 0.981 | D | 0.375 | neutral | None | None | None | None | I |
| D/N | 0.0829 | likely_benign | 0.0827 | benign | -0.542 | Destabilizing | 0.324 | N | 0.298 | neutral | N | 0.452412838 | None | None | I |
| D/P | 0.6548 | likely_pathogenic | 0.6718 | pathogenic | -0.072 | Destabilizing | 0.818 | D | 0.313 | neutral | None | None | None | None | I |
| D/Q | 0.3325 | likely_benign | 0.3241 | benign | -0.432 | Destabilizing | 0.818 | D | 0.283 | neutral | None | None | None | None | I |
| D/R | 0.3154 | likely_benign | 0.3074 | benign | 0.234 | Stabilizing | 0.818 | D | 0.389 | neutral | None | None | None | None | I |
| D/S | 0.0962 | likely_benign | 0.0952 | benign | -0.688 | Destabilizing | 0.116 | N | 0.267 | neutral | None | None | None | None | I |
| D/T | 0.2047 | likely_benign | 0.2012 | benign | -0.453 | Destabilizing | 0.388 | N | 0.327 | neutral | None | None | None | None | I |
| D/V | 0.2573 | likely_benign | 0.254 | benign | -0.072 | Destabilizing | 0.773 | D | 0.406 | neutral | N | 0.478879965 | None | None | I |
| D/W | 0.835 | likely_pathogenic | 0.8296 | pathogenic | 0.116 | Stabilizing | 0.981 | D | 0.429 | neutral | None | None | None | None | I |
| D/Y | 0.2291 | likely_benign | 0.2263 | benign | 0.116 | Stabilizing | 0.912 | D | 0.377 | neutral | N | 0.51951684 | None | None | I |
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.