Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19156 | 57691;57692;57693 | chr2:178597616;178597615;178597614 | chr2:179462343;179462342;179462341 |
| N2AB | 17515 | 52768;52769;52770 | chr2:178597616;178597615;178597614 | chr2:179462343;179462342;179462341 |
| N2A | 16588 | 49987;49988;49989 | chr2:178597616;178597615;178597614 | chr2:179462343;179462342;179462341 |
| N2B | 10091 | 30496;30497;30498 | chr2:178597616;178597615;178597614 | chr2:179462343;179462342;179462341 |
| Novex-1 | 10216 | 30871;30872;30873 | chr2:178597616;178597615;178597614 | chr2:179462343;179462342;179462341 |
| Novex-2 | 10283 | 31072;31073;31074 | chr2:178597616;178597615;178597614 | chr2:179462343;179462342;179462341 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.002 | N | 0.123 | 0.075 | 0.16115917748 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/R | rs2052061972  |
None | 0.549 | N | 0.371 | 0.151 | 0.359763055319 | gnomAD-4.0.0 | 1.59263E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86017E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0728 | likely_benign | 0.0676 | benign | -0.171 | Destabilizing | 0.25 | N | 0.256 | neutral | None | None | None | None | I |
| S/C | 0.1124 | likely_benign | 0.0999 | benign | -0.255 | Destabilizing | 0.99 | D | 0.321 | neutral | N | 0.465508391 | None | None | I |
| S/D | 0.2501 | likely_benign | 0.2755 | benign | -0.012 | Destabilizing | 0.447 | N | 0.221 | neutral | None | None | None | None | I |
| S/E | 0.2545 | likely_benign | 0.2678 | benign | -0.087 | Destabilizing | 0.25 | N | 0.234 | neutral | None | None | None | None | I |
| S/F | 0.1504 | likely_benign | 0.1459 | benign | -0.714 | Destabilizing | 0.92 | D | 0.333 | neutral | None | None | None | None | I |
| S/G | 0.0813 | likely_benign | 0.0757 | benign | -0.297 | Destabilizing | 0.002 | N | 0.123 | neutral | N | 0.453536315 | None | None | I |
| S/H | 0.1695 | likely_benign | 0.1689 | benign | -0.652 | Destabilizing | 0.92 | D | 0.319 | neutral | None | None | None | None | I |
| S/I | 0.1141 | likely_benign | 0.1016 | benign | 0.03 | Stabilizing | 0.81 | D | 0.366 | neutral | N | 0.50448521 | None | None | I |
| S/K | 0.2681 | likely_benign | 0.2914 | benign | -0.504 | Destabilizing | 0.447 | N | 0.219 | neutral | None | None | None | None | I |
| S/L | 0.0843 | likely_benign | 0.0805 | benign | 0.03 | Stabilizing | 0.447 | N | 0.361 | neutral | None | None | None | None | I |
| S/M | 0.1554 | likely_benign | 0.1383 | benign | -0.004 | Destabilizing | 0.972 | D | 0.318 | neutral | None | None | None | None | I |
| S/N | 0.0963 | likely_benign | 0.0896 | benign | -0.215 | Destabilizing | 0.016 | N | 0.17 | neutral | N | 0.470428565 | None | None | I |
| S/P | 0.19 | likely_benign | 0.1961 | benign | -0.008 | Destabilizing | 0.92 | D | 0.348 | neutral | None | None | None | None | I |
| S/Q | 0.2292 | likely_benign | 0.2279 | benign | -0.402 | Destabilizing | 0.059 | N | 0.15 | neutral | None | None | None | None | I |
| S/R | 0.2397 | likely_benign | 0.2649 | benign | -0.249 | Destabilizing | 0.549 | D | 0.371 | neutral | N | 0.455229826 | None | None | I |
| S/T | 0.0749 | likely_benign | 0.0705 | benign | -0.265 | Destabilizing | 0.016 | N | 0.164 | neutral | N | 0.470775282 | None | None | I |
| S/V | 0.1333 | likely_benign | 0.1195 | benign | -0.008 | Destabilizing | 0.447 | N | 0.359 | neutral | None | None | None | None | I |
| S/W | 0.2164 | likely_benign | 0.2267 | benign | -0.811 | Destabilizing | 0.992 | D | 0.363 | neutral | None | None | None | None | I |
| S/Y | 0.144 | likely_benign | 0.1554 | benign | -0.503 | Destabilizing | 0.972 | D | 0.337 | 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.