Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25867 | 77824;77825;77826 | chr2:178568533;178568532;178568531 | chr2:179433260;179433259;179433258 |
| N2AB | 24226 | 72901;72902;72903 | chr2:178568533;178568532;178568531 | chr2:179433260;179433259;179433258 |
| N2A | 23299 | 70120;70121;70122 | chr2:178568533;178568532;178568531 | chr2:179433260;179433259;179433258 |
| N2B | 16802 | 50629;50630;50631 | chr2:178568533;178568532;178568531 | chr2:179433260;179433259;179433258 |
| Novex-1 | 16927 | 51004;51005;51006 | chr2:178568533;178568532;178568531 | chr2:179433260;179433259;179433258 |
| Novex-2 | 16994 | 51205;51206;51207 | chr2:178568533;178568532;178568531 | chr2:179433260;179433259;179433258 |
| 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 | rs1706845925  |
None | None | N | 0.227 | 0.159 | 0.363751660372 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/L | rs1706845925 |
None | None | N | 0.227 | 0.159 | 0.363751660372 | gnomAD-4.0.0 | 6.57471E-06 | None | None | None | None | N | None | 2.41371E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/P | None | None | 0.065 | N | 0.454 | 0.226 | 0.284150004643 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1169 | likely_benign | 0.1166 | benign | -0.661 | Destabilizing | 0.004 | N | 0.269 | neutral | None | None | None | None | N |
| Q/C | 0.2289 | likely_benign | 0.2152 | benign | -0.019 | Destabilizing | 0.497 | N | 0.527 | neutral | None | None | None | None | N |
| Q/D | 0.226 | likely_benign | 0.2217 | benign | -0.454 | Destabilizing | 0.018 | N | 0.338 | neutral | None | None | None | None | N |
| Q/E | 0.0846 | likely_benign | 0.0834 | benign | -0.409 | Destabilizing | 0.003 | N | 0.256 | neutral | N | 0.41507758 | None | None | N |
| Q/F | 0.2361 | likely_benign | 0.2223 | benign | -0.652 | Destabilizing | 0.022 | N | 0.541 | neutral | None | None | None | None | N |
| Q/G | 0.1876 | likely_benign | 0.1764 | benign | -0.948 | Destabilizing | 0.018 | N | 0.341 | neutral | None | None | None | None | N |
| Q/H | 0.084 | likely_benign | 0.0839 | benign | -0.941 | Destabilizing | None | N | 0.167 | neutral | N | 0.480726569 | None | None | N |
| Q/I | 0.1195 | likely_benign | 0.1189 | benign | 0.043 | Stabilizing | 0.009 | N | 0.355 | neutral | None | None | None | None | N |
| Q/K | 0.0651 | likely_benign | 0.0635 | benign | -0.135 | Destabilizing | None | N | 0.112 | neutral | N | 0.379732856 | None | None | N |
| Q/L | 0.058 | likely_benign | 0.0573 | benign | 0.043 | Stabilizing | None | N | 0.227 | neutral | N | 0.442400254 | None | None | N |
| Q/M | 0.1371 | likely_benign | 0.1381 | benign | 0.6 | Stabilizing | None | N | 0.111 | neutral | None | None | None | None | N |
| Q/N | 0.1315 | likely_benign | 0.1296 | benign | -0.625 | Destabilizing | 0.009 | N | 0.339 | neutral | None | None | None | None | N |
| Q/P | 0.1243 | likely_benign | 0.122 | benign | -0.162 | Destabilizing | 0.065 | N | 0.454 | neutral | N | 0.49827218 | None | None | N |
| Q/R | 0.0726 | likely_benign | 0.07 | benign | -0.033 | Destabilizing | 0.007 | N | 0.345 | neutral | N | 0.442245539 | None | None | N |
| Q/S | 0.1145 | likely_benign | 0.112 | benign | -0.718 | Destabilizing | 0.004 | N | 0.254 | neutral | None | None | None | None | N |
| Q/T | 0.0917 | likely_benign | 0.091 | benign | -0.486 | Destabilizing | None | N | 0.173 | neutral | None | None | None | None | N |
| Q/V | 0.0907 | likely_benign | 0.0924 | benign | -0.162 | Destabilizing | 0.004 | N | 0.303 | neutral | None | None | None | None | N |
| Q/W | 0.2097 | likely_benign | 0.2035 | benign | -0.502 | Destabilizing | 0.497 | N | 0.517 | neutral | None | None | None | None | N |
| Q/Y | 0.1607 | likely_benign | 0.1588 | benign | -0.262 | Destabilizing | 0.022 | N | 0.465 | 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.