Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15827 | 47704;47705;47706 | chr2:178617872;178617871;178617870 | chr2:179482599;179482598;179482597 |
| N2AB | 14186 | 42781;42782;42783 | chr2:178617872;178617871;178617870 | chr2:179482599;179482598;179482597 |
| N2A | 13259 | 40000;40001;40002 | chr2:178617872;178617871;178617870 | chr2:179482599;179482598;179482597 |
| N2B | 6762 | 20509;20510;20511 | chr2:178617872;178617871;178617870 | chr2:179482599;179482598;179482597 |
| Novex-1 | 6887 | 20884;20885;20886 | chr2:178617872;178617871;178617870 | chr2:179482599;179482598;179482597 |
| Novex-2 | 6954 | 21085;21086;21087 | chr2:178617872;178617871;178617870 | chr2:179482599;179482598;179482597 |
| 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/H | rs752514306  |
None | 0.427 | N | 0.32 | 0.091 | 0.139678290688 | gnomAD-4.0.0 | 6.84637E-07 | None | None | None | None | N | None | 2.99455E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs1487021988 |
None | 0.042 | N | 0.221 | 0.181 | 0.101711395817 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs1487021988 |
None | 0.042 | N | 0.221 | 0.181 | 0.101711395817 | gnomAD-4.0.0 | 2.6321E-05 | None | None | None | None | N | None | 9.6567E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2376 | likely_benign | 0.2404 | benign | -0.794 | Destabilizing | 0.048 | N | 0.241 | neutral | None | None | None | None | N |
| Q/C | 0.5836 | likely_pathogenic | 0.5672 | pathogenic | -0.074 | Destabilizing | 0.958 | D | 0.42 | neutral | None | None | None | None | N |
| Q/D | 0.4588 | ambiguous | 0.4388 | ambiguous | -0.746 | Destabilizing | 0.055 | N | 0.198 | neutral | None | None | None | None | N |
| Q/E | 0.0989 | likely_benign | 0.0996 | benign | -0.601 | Destabilizing | None | N | 0.06 | neutral | N | 0.43609793 | None | None | N |
| Q/F | 0.6843 | likely_pathogenic | 0.6682 | pathogenic | -0.294 | Destabilizing | 0.859 | D | 0.447 | neutral | None | None | None | None | N |
| Q/G | 0.2885 | likely_benign | 0.2843 | benign | -1.197 | Destabilizing | 0.055 | N | 0.213 | neutral | None | None | None | None | N |
| Q/H | 0.2148 | likely_benign | 0.204 | benign | -0.849 | Destabilizing | 0.427 | N | 0.32 | neutral | N | 0.473322324 | None | None | N |
| Q/I | 0.4077 | ambiguous | 0.4033 | ambiguous | 0.265 | Stabilizing | 0.667 | D | 0.5 | neutral | None | None | None | None | N |
| Q/K | 0.0715 | likely_benign | 0.073 | benign | -0.544 | Destabilizing | None | N | 0.043 | neutral | N | 0.384425078 | None | None | N |
| Q/L | 0.1699 | likely_benign | 0.1686 | benign | 0.265 | Stabilizing | 0.081 | N | 0.232 | neutral | N | 0.467020055 | None | None | N |
| Q/M | 0.3178 | likely_benign | 0.3195 | benign | 0.655 | Stabilizing | 0.859 | D | 0.339 | neutral | None | None | None | None | N |
| Q/N | 0.2501 | likely_benign | 0.2471 | benign | -1.164 | Destabilizing | None | N | 0.082 | neutral | None | None | None | None | N |
| Q/P | 0.7875 | likely_pathogenic | 0.7278 | pathogenic | -0.057 | Destabilizing | 0.301 | N | 0.331 | neutral | D | 0.538364218 | None | None | N |
| Q/R | 0.0967 | likely_benign | 0.0932 | benign | -0.486 | Destabilizing | 0.042 | N | 0.221 | neutral | N | 0.429909665 | None | None | N |
| Q/S | 0.2654 | likely_benign | 0.2558 | benign | -1.293 | Destabilizing | 0.025 | N | 0.197 | neutral | None | None | None | None | N |
| Q/T | 0.2095 | likely_benign | 0.2077 | benign | -0.948 | Destabilizing | 0.104 | N | 0.283 | neutral | None | None | None | None | N |
| Q/V | 0.2745 | likely_benign | 0.2673 | benign | -0.057 | Destabilizing | 0.364 | N | 0.301 | neutral | None | None | None | None | N |
| Q/W | 0.6367 | likely_pathogenic | 0.6045 | pathogenic | -0.2 | Destabilizing | 0.958 | D | 0.385 | neutral | None | None | None | None | N |
| Q/Y | 0.4893 | ambiguous | 0.4548 | ambiguous | 0.018 | Stabilizing | 0.859 | D | 0.397 | 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.