Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26053 | 78382;78383;78384 | chr2:178567975;178567974;178567973 | chr2:179432702;179432701;179432700 |
| N2AB | 24412 | 73459;73460;73461 | chr2:178567975;178567974;178567973 | chr2:179432702;179432701;179432700 |
| N2A | 23485 | 70678;70679;70680 | chr2:178567975;178567974;178567973 | chr2:179432702;179432701;179432700 |
| N2B | 16988 | 51187;51188;51189 | chr2:178567975;178567974;178567973 | chr2:179432702;179432701;179432700 |
| Novex-1 | 17113 | 51562;51563;51564 | chr2:178567975;178567974;178567973 | chr2:179432702;179432701;179432700 |
| Novex-2 | 17180 | 51763;51764;51765 | chr2:178567975;178567974;178567973 | chr2:179432702;179432701;179432700 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs1475071129  |
-0.455 | 0.032 | N | 0.457 | 0.048 | 0.146414634003 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| Q/H | rs1475071129 |
-0.455 | 0.032 | N | 0.457 | 0.048 | 0.146414634003 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/H | rs1475071129 |
-0.455 | 0.032 | N | 0.457 | 0.048 | 0.146414634003 | gnomAD-4.0.0 | 6.57531E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47072E-05 | 0 | 0 |
| Q/R | None | None | 0.003 | N | 0.247 | 0.065 | 0.0716867268079 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.0849 | likely_benign | 0.0899 | benign | -0.409 | Destabilizing | None | N | 0.203 | neutral | None | None | None | None | N |
| Q/C | 0.2633 | likely_benign | 0.2899 | benign | 0.196 | Stabilizing | 0.132 | N | 0.534 | neutral | None | None | None | None | N |
| Q/D | 0.2146 | likely_benign | 0.2563 | benign | 0.012 | Stabilizing | 0.002 | N | 0.236 | neutral | None | None | None | None | N |
| Q/E | 0.0898 | likely_benign | 0.0939 | benign | 0.004 | Stabilizing | 0.001 | N | 0.241 | neutral | N | 0.390359989 | None | None | N |
| Q/F | 0.2987 | likely_benign | 0.3354 | benign | -0.471 | Destabilizing | 0.004 | N | 0.397 | neutral | None | None | None | None | N |
| Q/G | 0.1155 | likely_benign | 0.1247 | benign | -0.638 | Destabilizing | 0.001 | N | 0.317 | neutral | None | None | None | None | N |
| Q/H | 0.1155 | likely_benign | 0.1337 | benign | -0.495 | Destabilizing | 0.032 | N | 0.457 | neutral | N | 0.451795237 | None | None | N |
| Q/I | 0.1368 | likely_benign | 0.1484 | benign | 0.117 | Stabilizing | None | N | 0.346 | neutral | None | None | None | None | N |
| Q/K | 0.0988 | likely_benign | 0.0994 | benign | -0.017 | Destabilizing | 0.001 | N | 0.244 | neutral | N | 0.41296749 | None | None | N |
| Q/L | 0.0659 | likely_benign | 0.0652 | benign | 0.117 | Stabilizing | None | N | 0.245 | neutral | N | 0.426822221 | None | None | N |
| Q/M | 0.1401 | likely_benign | 0.1426 | benign | 0.514 | Stabilizing | 0.011 | N | 0.429 | neutral | None | None | None | None | N |
| Q/N | 0.1141 | likely_benign | 0.1266 | benign | -0.342 | Destabilizing | None | N | 0.178 | neutral | None | None | None | None | N |
| Q/P | 0.0809 | likely_benign | 0.0847 | benign | -0.029 | Destabilizing | 0.013 | N | 0.314 | neutral | N | 0.436287067 | None | None | N |
| Q/R | 0.1167 | likely_benign | 0.1228 | benign | 0.159 | Stabilizing | 0.003 | N | 0.247 | neutral | N | 0.40513744 | None | None | N |
| Q/S | 0.0869 | likely_benign | 0.0906 | benign | -0.402 | Destabilizing | None | N | 0.133 | neutral | None | None | None | None | N |
| Q/T | 0.0745 | likely_benign | 0.0756 | benign | -0.241 | Destabilizing | None | N | 0.227 | neutral | None | None | None | None | N |
| Q/V | 0.0897 | likely_benign | 0.0948 | benign | -0.029 | Destabilizing | None | N | 0.239 | neutral | None | None | None | None | N |
| Q/W | 0.329 | likely_benign | 0.3698 | ambiguous | -0.376 | Destabilizing | 0.316 | N | 0.459 | neutral | None | None | None | None | N |
| Q/Y | 0.2279 | likely_benign | 0.2466 | benign | -0.158 | Destabilizing | 0.018 | N | 0.467 | 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.