Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20235 | 60928;60929;60930 | chr2:178591022;178591021;178591020 | chr2:179455749;179455748;179455747 |
| N2AB | 18594 | 56005;56006;56007 | chr2:178591022;178591021;178591020 | chr2:179455749;179455748;179455747 |
| N2A | 17667 | 53224;53225;53226 | chr2:178591022;178591021;178591020 | chr2:179455749;179455748;179455747 |
| N2B | 11170 | 33733;33734;33735 | chr2:178591022;178591021;178591020 | chr2:179455749;179455748;179455747 |
| Novex-1 | 11295 | 34108;34109;34110 | chr2:178591022;178591021;178591020 | chr2:179455749;179455748;179455747 |
| Novex-2 | 11362 | 34309;34310;34311 | chr2:178591022;178591021;178591020 | chr2:179455749;179455748;179455747 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/L | None | None | 0.425 | N | 0.401 | 0.201 | 0.485493271093 | 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 |
| H/Q | rs745785822  |
0.279 | 0.642 | N | 0.299 | 0.069 | 0.162503812791 | gnomAD-2.1.1 | 5.65E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.57576E-04 | None | 0 | 0 | 0 |
| H/Q | rs745785822 |
0.279 | 0.642 | N | 0.299 | 0.069 | 0.162503812791 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| H/Q | rs745785822 |
0.279 | 0.642 | N | 0.299 | 0.069 | 0.162503812791 | gnomAD-4.0.0 | 2.47931E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.17243E-04 | 3.20297E-05 |
| H/R | rs2050096769 |
None | 0.001 | N | 0.116 | 0.15 | 0.136095386433 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs2050096769 |
None | 0.001 | N | 0.116 | 0.15 | 0.136095386433 | gnomAD-4.0.0 | 2.03005E-06 | None | None | None | None | N | None | 1.74758E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20497E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.3241 | likely_benign | 0.3341 | benign | 0.544 | Stabilizing | 0.495 | N | 0.325 | neutral | None | None | None | None | N |
| H/C | 0.1735 | likely_benign | 0.1759 | benign | 0.699 | Stabilizing | 0.995 | D | 0.394 | neutral | None | None | None | None | N |
| H/D | 0.3157 | likely_benign | 0.3445 | ambiguous | -0.4 | Destabilizing | 0.784 | D | 0.407 | neutral | N | 0.385793957 | None | None | N |
| H/E | 0.4415 | ambiguous | 0.4636 | ambiguous | -0.386 | Destabilizing | 0.495 | N | 0.292 | neutral | None | None | None | None | N |
| H/F | 0.3087 | likely_benign | 0.3035 | benign | 1.127 | Stabilizing | 0.981 | D | 0.427 | neutral | None | None | None | None | N |
| H/G | 0.251 | likely_benign | 0.2544 | benign | 0.312 | Stabilizing | 0.665 | D | 0.327 | neutral | None | None | None | None | N |
| H/I | 0.4446 | ambiguous | 0.4457 | ambiguous | 1.122 | Stabilizing | 0.944 | D | 0.466 | neutral | None | None | None | None | N |
| H/K | 0.2468 | likely_benign | 0.2365 | benign | 0.424 | Stabilizing | 0.176 | N | 0.318 | neutral | None | None | None | None | N |
| H/L | 0.1383 | likely_benign | 0.1489 | benign | 1.122 | Stabilizing | 0.425 | N | 0.401 | neutral | N | 0.494292433 | None | None | N |
| H/M | 0.4805 | ambiguous | 0.4861 | ambiguous | 0.707 | Stabilizing | 0.981 | D | 0.412 | neutral | None | None | None | None | N |
| H/N | 0.1193 | likely_benign | 0.1247 | benign | 0.236 | Stabilizing | 0.425 | N | 0.329 | neutral | N | 0.391103777 | None | None | N |
| H/P | 0.3505 | ambiguous | 0.3815 | ambiguous | 0.952 | Stabilizing | 0.917 | D | 0.437 | neutral | N | 0.463969526 | None | None | N |
| H/Q | 0.1977 | likely_benign | 0.199 | benign | 0.313 | Stabilizing | 0.642 | D | 0.299 | neutral | N | 0.474570522 | None | None | N |
| H/R | 0.0885 | likely_benign | 0.0876 | benign | -0.131 | Destabilizing | 0.001 | N | 0.116 | neutral | N | 0.352108245 | None | None | N |
| H/S | 0.2749 | likely_benign | 0.283 | benign | 0.468 | Stabilizing | 0.495 | N | 0.327 | neutral | None | None | None | None | N |
| H/T | 0.3545 | ambiguous | 0.3653 | ambiguous | 0.574 | Stabilizing | 0.828 | D | 0.377 | neutral | None | None | None | None | N |
| H/V | 0.3387 | likely_benign | 0.3385 | benign | 0.952 | Stabilizing | 0.828 | D | 0.463 | neutral | None | None | None | None | N |
| H/W | 0.3974 | ambiguous | 0.3843 | ambiguous | 1.01 | Stabilizing | 0.995 | D | 0.384 | neutral | None | None | None | None | N |
| H/Y | 0.1012 | likely_benign | 0.1006 | benign | 1.261 | Stabilizing | 0.917 | D | 0.384 | neutral | N | 0.483075362 | 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.