Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7387 | 22384;22385;22386 | chr2:178722740;178722739;178722738 | chr2:179587467;179587466;179587465 |
| N2AB | 7070 | 21433;21434;21435 | chr2:178722740;178722739;178722738 | chr2:179587467;179587466;179587465 |
| N2A | 6143 | 18652;18653;18654 | chr2:178722740;178722739;178722738 | chr2:179587467;179587466;179587465 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs1322069971  |
0.029 | 0.001 | N | 0.09 | 0.086 | 0.0611884634855 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 9.97E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/L | rs1322069971 |
0.029 | 0.001 | N | 0.09 | 0.086 | 0.0611884634855 | gnomAD-4.0.0 | 3.18529E-06 | None | None | None | None | I | None | 0 | 0 | None | 4.77008E-05 | 0 | None | 0 | 0 | 2.8603E-06 | 0 | 0 |
| I/S | rs759166844 |
-0.062 | 0.002 | N | 0.133 | 0.202 | 0.289847578895 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 9.83E-05 | None | 0 | 0 | 0 |
| I/S | rs759166844 |
-0.062 | 0.002 | N | 0.133 | 0.202 | 0.289847578895 | gnomAD-4.0.0 | 4.77812E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.30219E-05 | 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 | 0.1038 | likely_benign | 0.1276 | benign | -0.879 | Destabilizing | 0.051 | N | 0.213 | neutral | None | None | None | None | I |
| I/C | 0.3444 | ambiguous | 0.4291 | ambiguous | -0.641 | Destabilizing | 0.968 | D | 0.175 | neutral | None | None | None | None | I |
| I/D | 0.2188 | likely_benign | 0.2901 | benign | -0.252 | Destabilizing | 0.582 | D | 0.341 | neutral | None | None | None | None | I |
| I/E | 0.1746 | likely_benign | 0.2117 | benign | -0.33 | Destabilizing | 0.223 | N | 0.275 | neutral | None | None | None | None | I |
| I/F | 0.0895 | likely_benign | 0.1078 | benign | -0.804 | Destabilizing | 0.001 | N | 0.127 | neutral | N | 0.445356762 | None | None | I |
| I/G | 0.1814 | likely_benign | 0.2405 | benign | -1.082 | Destabilizing | 0.223 | N | 0.266 | neutral | None | None | None | None | I |
| I/H | 0.1539 | likely_benign | 0.1985 | benign | -0.329 | Destabilizing | 0.908 | D | 0.234 | neutral | None | None | None | None | I |
| I/K | 0.1016 | likely_benign | 0.1199 | benign | -0.46 | Destabilizing | 0.001 | N | 0.169 | neutral | None | None | None | None | I |
| I/L | 0.0712 | likely_benign | 0.0771 | benign | -0.452 | Destabilizing | 0.001 | N | 0.09 | neutral | N | 0.367586625 | None | None | I |
| I/M | 0.0708 | likely_benign | 0.075 | benign | -0.385 | Destabilizing | 0.786 | D | 0.189 | neutral | N | 0.439873584 | None | None | I |
| I/N | 0.0841 | likely_benign | 0.105 | benign | -0.224 | Destabilizing | 0.512 | D | 0.347 | neutral | N | 0.462942445 | None | None | I |
| I/P | 0.1908 | likely_benign | 0.2414 | benign | -0.56 | Destabilizing | 0.738 | D | 0.353 | neutral | None | None | None | None | I |
| I/Q | 0.1254 | likely_benign | 0.1547 | benign | -0.457 | Destabilizing | 0.582 | D | 0.343 | neutral | None | None | None | None | I |
| I/R | 0.0751 | likely_benign | 0.0946 | benign | 0.125 | Stabilizing | 0.008 | N | 0.231 | neutral | None | None | None | None | I |
| I/S | 0.0847 | likely_benign | 0.107 | benign | -0.741 | Destabilizing | 0.002 | N | 0.133 | neutral | N | 0.425616208 | None | None | I |
| I/T | 0.087 | likely_benign | 0.1012 | benign | -0.705 | Destabilizing | 0.178 | N | 0.257 | neutral | N | 0.439353509 | None | None | I |
| I/V | 0.0666 | likely_benign | 0.0674 | benign | -0.56 | Destabilizing | 0.001 | N | 0.104 | neutral | N | 0.401488555 | None | None | I |
| I/W | 0.3516 | ambiguous | 0.4511 | ambiguous | -0.81 | Destabilizing | 0.968 | D | 0.215 | neutral | None | None | None | None | I |
| I/Y | 0.216 | likely_benign | 0.2667 | benign | -0.563 | Destabilizing | 0.008 | N | 0.175 | neutral | None | None | 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.