Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27707 | 83344;83345;83346 | chr2:178563013;178563012;178563011 | chr2:179427740;179427739;179427738 |
| N2AB | 26066 | 78421;78422;78423 | chr2:178563013;178563012;178563011 | chr2:179427740;179427739;179427738 |
| N2A | 25139 | 75640;75641;75642 | chr2:178563013;178563012;178563011 | chr2:179427740;179427739;179427738 |
| N2B | 18642 | 56149;56150;56151 | chr2:178563013;178563012;178563011 | chr2:179427740;179427739;179427738 |
| Novex-1 | 18767 | 56524;56525;56526 | chr2:178563013;178563012;178563011 | chr2:179427740;179427739;179427738 |
| Novex-2 | 18834 | 56725;56726;56727 | chr2:178563013;178563012;178563011 | chr2:179427740;179427739;179427738 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | rs771940719  |
-2.395 | 0.999 | D | 0.87 | 0.752 | 0.919593144702 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.95E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/G | rs771940719 |
-2.395 | 0.999 | D | 0.87 | 0.752 | 0.919593144702 | gnomAD-4.0.0 | 1.5915E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76781E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | None | None | 0.117 | N | 0.295 | 0.22 | 0.500931478032 | gnomAD-4.0.0 | 1.59148E-06 | None | None | None | None | N | None | 5.65675E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4196 | ambiguous | 0.3517 | ambiguous | -1.744 | Destabilizing | 0.977 | D | 0.607 | neutral | D | 0.576766034 | None | None | N |
| V/C | 0.8354 | likely_pathogenic | 0.812 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/D | 0.9806 | likely_pathogenic | 0.9774 | pathogenic | -2.011 | Highly Destabilizing | 0.999 | D | 0.857 | deleterious | D | 0.618277247 | None | None | N |
| V/E | 0.9544 | likely_pathogenic | 0.9501 | pathogenic | -1.858 | Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | N |
| V/F | 0.7054 | likely_pathogenic | 0.6809 | pathogenic | -1.056 | Destabilizing | 0.993 | D | 0.791 | deleterious | D | 0.568776174 | None | None | N |
| V/G | 0.5894 | likely_pathogenic | 0.5504 | ambiguous | -2.215 | Highly Destabilizing | 0.999 | D | 0.87 | deleterious | D | 0.618277247 | None | None | N |
| V/H | 0.9827 | likely_pathogenic | 0.9796 | pathogenic | -1.892 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/I | 0.1102 | likely_benign | 0.1142 | benign | -0.473 | Destabilizing | 0.117 | N | 0.295 | neutral | N | 0.452412178 | None | None | N |
| V/K | 0.9502 | likely_pathogenic | 0.9455 | pathogenic | -1.561 | Destabilizing | 0.998 | D | 0.853 | deleterious | None | None | None | None | N |
| V/L | 0.6781 | likely_pathogenic | 0.6503 | pathogenic | -0.473 | Destabilizing | 0.898 | D | 0.623 | neutral | D | 0.556219641 | None | None | N |
| V/M | 0.5269 | ambiguous | 0.5132 | ambiguous | -0.382 | Destabilizing | 0.995 | D | 0.742 | deleterious | None | None | None | None | N |
| V/N | 0.9315 | likely_pathogenic | 0.9197 | pathogenic | -1.655 | Destabilizing | 0.999 | D | 0.886 | deleterious | None | None | None | None | N |
| V/P | 0.9057 | likely_pathogenic | 0.8818 | pathogenic | -0.866 | Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | N |
| V/Q | 0.9411 | likely_pathogenic | 0.9323 | pathogenic | -1.596 | Destabilizing | 0.999 | D | 0.871 | deleterious | None | None | None | None | N |
| V/R | 0.9363 | likely_pathogenic | 0.926 | pathogenic | -1.289 | Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | None | None | N |
| V/S | 0.7477 | likely_pathogenic | 0.6919 | pathogenic | -2.235 | Highly Destabilizing | 0.998 | D | 0.855 | deleterious | None | None | None | None | N |
| V/T | 0.6642 | likely_pathogenic | 0.6076 | pathogenic | -1.947 | Destabilizing | 0.983 | D | 0.693 | prob.neutral | None | None | None | None | N |
| V/W | 0.9877 | likely_pathogenic | 0.9869 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/Y | 0.9426 | likely_pathogenic | 0.9328 | pathogenic | -1.102 | Destabilizing | 0.999 | D | 0.784 | deleterious | 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.