Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20507 | 61744;61745;61746 | chr2:178590206;178590205;178590204 | chr2:179454933;179454932;179454931 |
| N2AB | 18866 | 56821;56822;56823 | chr2:178590206;178590205;178590204 | chr2:179454933;179454932;179454931 |
| N2A | 17939 | 54040;54041;54042 | chr2:178590206;178590205;178590204 | chr2:179454933;179454932;179454931 |
| N2B | 11442 | 34549;34550;34551 | chr2:178590206;178590205;178590204 | chr2:179454933;179454932;179454931 |
| Novex-1 | 11567 | 34924;34925;34926 | chr2:178590206;178590205;178590204 | chr2:179454933;179454932;179454931 |
| Novex-2 | 11634 | 35125;35126;35127 | chr2:178590206;178590205;178590204 | chr2:179454933;179454932;179454931 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 0.896 | N | 0.521 | 0.346 | 0.353336612579 | gnomAD-4.0.0 | 1.60609E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.04544E-05 |
| D/H | rs777239380  |
-0.209 | 0.984 | N | 0.609 | 0.377 | 0.394837016283 | gnomAD-2.1.1 | 4.13E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.47E-05 | None | 0 | 0 | 0 |
| D/H | rs777239380 |
-0.209 | 0.984 | N | 0.609 | 0.377 | 0.394837016283 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06782E-04 | 0 |
| D/H | rs777239380 |
-0.209 | 0.984 | N | 0.609 | 0.377 | 0.394837016283 | gnomAD-4.0.0 | 6.57722E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.06782E-04 | 0 |
| D/Y | None | None | 0.995 | N | 0.695 | 0.447 | 0.577897453458 | gnomAD-4.0.0 | 1.60751E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.04711E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1184 | likely_benign | 0.1299 | benign | -0.286 | Destabilizing | 0.896 | D | 0.563 | neutral | N | 0.439359949 | None | None | I |
| D/C | 0.4719 | ambiguous | 0.5346 | ambiguous | 0.002 | Stabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | I |
| D/E | 0.1037 | likely_benign | 0.0999 | benign | -0.412 | Destabilizing | 0.011 | N | 0.142 | neutral | N | 0.364822118 | None | None | I |
| D/F | 0.4694 | ambiguous | 0.506 | ambiguous | -0.233 | Destabilizing | 0.996 | D | 0.696 | prob.neutral | None | None | None | None | I |
| D/G | 0.1847 | likely_benign | 0.2252 | benign | -0.498 | Destabilizing | 0.896 | D | 0.521 | neutral | N | 0.495271947 | None | None | I |
| D/H | 0.2107 | likely_benign | 0.2494 | benign | -0.143 | Destabilizing | 0.984 | D | 0.609 | neutral | N | 0.467527985 | None | None | I |
| D/I | 0.1819 | likely_benign | 0.1987 | benign | 0.226 | Stabilizing | 0.976 | D | 0.695 | prob.neutral | None | None | None | None | I |
| D/K | 0.2474 | likely_benign | 0.3121 | benign | 0.192 | Stabilizing | 0.851 | D | 0.526 | neutral | None | None | None | None | I |
| D/L | 0.2344 | likely_benign | 0.2489 | benign | 0.226 | Stabilizing | 0.976 | D | 0.605 | neutral | None | None | None | None | I |
| D/M | 0.4058 | ambiguous | 0.4124 | ambiguous | 0.358 | Stabilizing | 0.999 | D | 0.683 | prob.neutral | None | None | None | None | I |
| D/N | 0.0846 | likely_benign | 0.0927 | benign | -0.076 | Destabilizing | 0.896 | D | 0.505 | neutral | N | 0.441688178 | None | None | I |
| D/P | 0.8305 | likely_pathogenic | 0.8912 | pathogenic | 0.078 | Stabilizing | 0.988 | D | 0.584 | neutral | None | None | None | None | I |
| D/Q | 0.2094 | likely_benign | 0.2371 | benign | -0.042 | Destabilizing | 0.851 | D | 0.487 | neutral | None | None | None | None | I |
| D/R | 0.3085 | likely_benign | 0.3884 | ambiguous | 0.364 | Stabilizing | 0.976 | D | 0.629 | neutral | None | None | None | None | I |
| D/S | 0.1027 | likely_benign | 0.1131 | benign | -0.19 | Destabilizing | 0.851 | D | 0.456 | neutral | None | None | None | None | I |
| D/T | 0.149 | likely_benign | 0.1573 | benign | -0.03 | Destabilizing | 0.132 | N | 0.294 | neutral | None | None | None | None | I |
| D/V | 0.1136 | likely_benign | 0.119 | benign | 0.078 | Stabilizing | 0.896 | D | 0.613 | neutral | N | 0.437378437 | None | None | I |
| D/W | 0.8548 | likely_pathogenic | 0.875 | pathogenic | -0.114 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | I |
| D/Y | 0.2092 | likely_benign | 0.24 | benign | -0.001 | Destabilizing | 0.995 | D | 0.695 | prob.neutral | N | 0.501544558 | 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.