Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29911 | 89956;89957;89958 | chr2:178553169;178553168;178553167 | chr2:179417896;179417895;179417894 |
| N2AB | 28270 | 85033;85034;85035 | chr2:178553169;178553168;178553167 | chr2:179417896;179417895;179417894 |
| N2A | 27343 | 82252;82253;82254 | chr2:178553169;178553168;178553167 | chr2:179417896;179417895;179417894 |
| N2B | 20846 | 62761;62762;62763 | chr2:178553169;178553168;178553167 | chr2:179417896;179417895;179417894 |
| Novex-1 | 20971 | 63136;63137;63138 | chr2:178553169;178553168;178553167 | chr2:179417896;179417895;179417894 |
| Novex-2 | 21038 | 63337;63338;63339 | chr2:178553169;178553168;178553167 | chr2:179417896;179417895;179417894 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/S | rs1261129308  |
None | 0.175 | N | 0.515 | 0.151 | 0.587387877561 | 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 |
| I/S | rs1261129308 |
None | 0.175 | N | 0.515 | 0.151 | 0.587387877561 | gnomAD-4.0.0 | 6.56901E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46977E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3214 | likely_benign | 0.2595 | benign | -2.106 | Highly Destabilizing | 0.055 | N | 0.445 | neutral | None | None | None | None | N |
| I/C | 0.5281 | ambiguous | 0.4841 | ambiguous | -1.604 | Destabilizing | 0.667 | D | 0.52 | neutral | None | None | None | None | N |
| I/D | 0.6262 | likely_pathogenic | 0.5299 | ambiguous | -1.581 | Destabilizing | 0.667 | D | 0.589 | neutral | None | None | None | None | N |
| I/E | 0.5036 | ambiguous | 0.4211 | ambiguous | -1.406 | Destabilizing | 0.364 | N | 0.571 | neutral | None | None | None | None | N |
| I/F | 0.1387 | likely_benign | 0.1301 | benign | -1.244 | Destabilizing | 0.096 | N | 0.448 | neutral | N | 0.502268837 | None | None | N |
| I/G | 0.627 | likely_pathogenic | 0.5252 | ambiguous | -2.595 | Highly Destabilizing | 0.364 | N | 0.542 | neutral | None | None | None | None | N |
| I/H | 0.3101 | likely_benign | 0.2705 | benign | -1.925 | Destabilizing | 0.667 | D | 0.576 | neutral | None | None | None | None | N |
| I/K | 0.3229 | likely_benign | 0.2867 | benign | -1.324 | Destabilizing | 0.364 | N | 0.549 | neutral | None | None | None | None | N |
| I/L | 0.1144 | likely_benign | 0.1009 | benign | -0.736 | Destabilizing | None | N | 0.199 | neutral | N | 0.439622868 | None | None | N |
| I/M | 0.1075 | likely_benign | 0.0979 | benign | -0.848 | Destabilizing | 0.427 | N | 0.507 | neutral | N | 0.483683077 | None | None | N |
| I/N | 0.1993 | likely_benign | 0.1588 | benign | -1.476 | Destabilizing | 0.822 | D | 0.574 | neutral | N | 0.45440032 | None | None | N |
| I/P | 0.9556 | likely_pathogenic | 0.9316 | pathogenic | -1.169 | Destabilizing | 0.859 | D | 0.59 | neutral | None | None | None | None | N |
| I/Q | 0.3304 | likely_benign | 0.28 | benign | -1.402 | Destabilizing | 0.859 | D | 0.571 | neutral | None | None | None | None | N |
| I/R | 0.2422 | likely_benign | 0.2066 | benign | -1.084 | Destabilizing | 0.667 | D | 0.575 | neutral | None | None | None | None | N |
| I/S | 0.1965 | likely_benign | 0.155 | benign | -2.294 | Highly Destabilizing | 0.175 | N | 0.515 | neutral | N | 0.440276229 | None | None | N |
| I/T | 0.1347 | likely_benign | 0.1053 | benign | -1.973 | Destabilizing | 0.081 | N | 0.478 | neutral | N | 0.355809406 | None | None | N |
| I/V | 0.0738 | likely_benign | 0.0693 | benign | -1.169 | Destabilizing | None | N | 0.203 | neutral | N | 0.397429529 | None | None | N |
| I/W | 0.695 | likely_pathogenic | 0.6685 | pathogenic | -1.457 | Destabilizing | 0.958 | D | 0.595 | neutral | None | None | None | None | N |
| I/Y | 0.3657 | ambiguous | 0.3237 | benign | -1.168 | Destabilizing | 0.004 | N | 0.305 | 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.