Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1333 | 4222;4223;4224 | chr2:178779085;178779084;178779083 | chr2:179643812;179643811;179643810 |
| N2AB | 1333 | 4222;4223;4224 | chr2:178779085;178779084;178779083 | chr2:179643812;179643811;179643810 |
| N2A | 1333 | 4222;4223;4224 | chr2:178779085;178779084;178779083 | chr2:179643812;179643811;179643810 |
| N2B | 1287 | 4084;4085;4086 | chr2:178779085;178779084;178779083 | chr2:179643812;179643811;179643810 |
| Novex-1 | 1287 | 4084;4085;4086 | chr2:178779085;178779084;178779083 | chr2:179643812;179643811;179643810 |
| Novex-2 | 1287 | 4084;4085;4086 | chr2:178779085;178779084;178779083 | chr2:179643812;179643811;179643810 |
| Novex-3 | 1333 | 4222;4223;4224 | chr2:178779085;178779084;178779083 | chr2:179643812;179643811;179643810 |
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/P | rs768478889  |
0.904 | 0.001 | N | 0.136 | 0.264 | None | gnomAD-2.1.1 | 4E-06 | None | None | None | None | N | None | 6.16E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/P | rs768478889 |
0.904 | 0.001 | N | 0.136 | 0.264 | None | gnomAD-4.0.0 | 1.36835E-06 | None | None | None | None | N | None | 5.9755E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs768478889 |
-0.078 | 0.002 | N | 0.154 | 0.13 | 0.115124310173 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 8.87E-06 | 0 |
| H/R | rs768478889 |
-0.078 | 0.002 | N | 0.154 | 0.13 | 0.115124310173 | gnomAD-4.0.0 | 2.7367E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99347E-07 | 3.4785E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.1899 | likely_benign | 0.1914 | benign | 0.374 | Stabilizing | 0.001 | N | 0.126 | neutral | None | None | None | None | N |
| H/C | 0.2936 | likely_benign | 0.2783 | benign | 0.644 | Stabilizing | 0.983 | D | 0.294 | neutral | None | None | None | None | N |
| H/D | 0.2395 | likely_benign | 0.2661 | benign | -0.025 | Destabilizing | 0.351 | N | 0.278 | neutral | N | 0.40823543 | None | None | N |
| H/E | 0.2949 | likely_benign | 0.3163 | benign | -0.013 | Destabilizing | 0.129 | N | 0.179 | neutral | None | None | None | None | N |
| H/F | 0.3602 | ambiguous | 0.3565 | ambiguous | 0.954 | Stabilizing | 0.94 | D | 0.335 | neutral | None | None | None | None | N |
| H/G | 0.2666 | likely_benign | 0.2901 | benign | 0.127 | Stabilizing | 0.228 | N | 0.219 | neutral | None | None | None | None | N |
| H/I | 0.3852 | ambiguous | 0.4023 | ambiguous | 0.991 | Stabilizing | 0.593 | D | 0.389 | neutral | None | None | None | None | N |
| H/K | 0.2682 | likely_benign | 0.2898 | benign | 0.323 | Stabilizing | 0.129 | N | 0.25 | neutral | None | None | None | None | N |
| H/L | 0.1402 | likely_benign | 0.1437 | benign | 0.991 | Stabilizing | 0.183 | N | 0.296 | neutral | N | 0.432675375 | None | None | N |
| H/M | 0.4608 | ambiguous | 0.4663 | ambiguous | 0.708 | Stabilizing | 0.836 | D | 0.309 | neutral | None | None | None | None | N |
| H/N | 0.1059 | likely_benign | 0.1109 | benign | 0.257 | Stabilizing | 0.351 | N | 0.146 | neutral | N | 0.419403112 | None | None | N |
| H/P | 0.0745 | likely_benign | 0.0783 | benign | 0.81 | Stabilizing | 0.001 | N | 0.136 | neutral | N | 0.31466332 | None | None | N |
| H/Q | 0.1737 | likely_benign | 0.1866 | benign | 0.33 | Stabilizing | 0.007 | N | 0.199 | neutral | N | 0.426170522 | None | None | N |
| H/R | 0.1352 | likely_benign | 0.1533 | benign | -0.176 | Destabilizing | 0.002 | N | 0.154 | neutral | N | 0.443787174 | None | None | N |
| H/S | 0.1853 | likely_benign | 0.1913 | benign | 0.341 | Stabilizing | 0.129 | N | 0.246 | neutral | None | None | None | None | N |
| H/T | 0.2561 | likely_benign | 0.2743 | benign | 0.45 | Stabilizing | 0.228 | N | 0.275 | neutral | None | None | None | None | N |
| H/V | 0.2956 | likely_benign | 0.3112 | benign | 0.81 | Stabilizing | 0.418 | N | 0.335 | neutral | None | None | None | None | N |
| H/W | 0.4582 | ambiguous | 0.4633 | ambiguous | 0.896 | Stabilizing | 0.983 | D | 0.3 | neutral | None | None | None | None | N |
| H/Y | 0.1298 | likely_benign | 0.1295 | benign | 1.174 | Stabilizing | 0.77 | D | 0.238 | neutral | N | 0.485490454 | 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.