Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31955 | 96088;96089;96090 | chr2:178544366;178544365;178544364 | chr2:179409093;179409092;179409091 |
| N2AB | 30314 | 91165;91166;91167 | chr2:178544366;178544365;178544364 | chr2:179409093;179409092;179409091 |
| N2A | 29387 | 88384;88385;88386 | chr2:178544366;178544365;178544364 | chr2:179409093;179409092;179409091 |
| N2B | 22890 | 68893;68894;68895 | chr2:178544366;178544365;178544364 | chr2:179409093;179409092;179409091 |
| Novex-1 | 23015 | 69268;69269;69270 | chr2:178544366;178544365;178544364 | chr2:179409093;179409092;179409091 |
| Novex-2 | 23082 | 69469;69470;69471 | chr2:178544366;178544365;178544364 | chr2:179409093;179409092;179409091 |
| 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/L | rs552683796  |
0.224 | 0.324 | N | 0.337 | 0.343 | 0.443999229985 | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.94098E-04 | None | 0 | 0 | 0 |
| Q/L | rs552683796 |
0.224 | 0.324 | N | 0.337 | 0.343 | 0.443999229985 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14594E-04 | 0 |
| Q/L | rs552683796 |
0.224 | 0.324 | N | 0.337 | 0.343 | 0.443999229985 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| Q/L | rs552683796 |
0.224 | 0.324 | N | 0.337 | 0.343 | 0.443999229985 | gnomAD-4.0.0 | 1.3632E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.19597E-04 | 3.20092E-05 |
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 | 0.1849 | likely_benign | 0.1752 | benign | -0.338 | Destabilizing | 0.241 | N | 0.301 | neutral | None | None | None | None | N |
| Q/C | 0.4952 | ambiguous | 0.4553 | ambiguous | 0.021 | Stabilizing | 0.981 | D | 0.452 | neutral | None | None | None | None | N |
| Q/D | 0.2507 | likely_benign | 0.2259 | benign | 0.06 | Stabilizing | 0.241 | N | 0.336 | neutral | None | None | None | None | N |
| Q/E | 0.0746 | likely_benign | 0.0731 | benign | 0.058 | Stabilizing | 0.001 | N | 0.171 | neutral | N | 0.395053733 | None | None | N |
| Q/F | 0.5856 | likely_pathogenic | 0.5473 | ambiguous | -0.476 | Destabilizing | 0.818 | D | 0.404 | neutral | None | None | None | None | N |
| Q/G | 0.2503 | likely_benign | 0.2269 | benign | -0.538 | Destabilizing | 0.388 | N | 0.325 | neutral | None | None | None | None | N |
| Q/H | 0.1742 | likely_benign | 0.1536 | benign | -0.214 | Destabilizing | 0.003 | N | 0.213 | neutral | N | 0.454662184 | None | None | N |
| Q/I | 0.2647 | likely_benign | 0.2431 | benign | 0.113 | Stabilizing | 0.818 | D | 0.401 | neutral | None | None | None | None | N |
| Q/K | 0.0799 | likely_benign | 0.0765 | benign | -0.055 | Destabilizing | 0.09 | N | 0.38 | neutral | N | 0.419778819 | None | None | N |
| Q/L | 0.1319 | likely_benign | 0.1203 | benign | 0.113 | Stabilizing | 0.324 | N | 0.337 | neutral | N | 0.440943525 | None | None | N |
| Q/M | 0.2914 | likely_benign | 0.2756 | benign | 0.145 | Stabilizing | 0.932 | D | 0.305 | neutral | None | None | None | None | N |
| Q/N | 0.2089 | likely_benign | 0.1884 | benign | -0.342 | Destabilizing | 0.388 | N | 0.313 | neutral | None | None | None | None | N |
| Q/P | 0.3193 | likely_benign | 0.2714 | benign | -0.009 | Destabilizing | 0.773 | D | 0.295 | neutral | N | 0.444522548 | None | None | N |
| Q/R | 0.0967 | likely_benign | 0.0922 | benign | 0.171 | Stabilizing | 0.324 | N | 0.333 | neutral | N | 0.423088483 | None | None | N |
| Q/S | 0.2067 | likely_benign | 0.1927 | benign | -0.385 | Destabilizing | 0.241 | N | 0.317 | neutral | None | None | None | None | N |
| Q/T | 0.1469 | likely_benign | 0.14 | benign | -0.233 | Destabilizing | 0.388 | N | 0.275 | neutral | None | None | None | None | N |
| Q/V | 0.1866 | likely_benign | 0.1752 | benign | -0.009 | Destabilizing | 0.69 | D | 0.349 | neutral | None | None | None | None | N |
| Q/W | 0.5248 | ambiguous | 0.4783 | ambiguous | -0.467 | Destabilizing | 0.981 | D | 0.45 | neutral | None | None | None | None | N |
| Q/Y | 0.371 | ambiguous | 0.3369 | benign | -0.224 | Destabilizing | 0.527 | D | 0.311 | 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.