Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29867 | 89824;89825;89826 | chr2:178553301;178553300;178553299 | chr2:179418028;179418027;179418026 |
| N2AB | 28226 | 84901;84902;84903 | chr2:178553301;178553300;178553299 | chr2:179418028;179418027;179418026 |
| N2A | 27299 | 82120;82121;82122 | chr2:178553301;178553300;178553299 | chr2:179418028;179418027;179418026 |
| N2B | 20802 | 62629;62630;62631 | chr2:178553301;178553300;178553299 | chr2:179418028;179418027;179418026 |
| Novex-1 | 20927 | 63004;63005;63006 | chr2:178553301;178553300;178553299 | chr2:179418028;179418027;179418026 |
| Novex-2 | 20994 | 63205;63206;63207 | chr2:178553301;178553300;178553299 | chr2:179418028;179418027;179418026 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1163231523  |
-0.365 | 1.0 | D | 0.768 | 0.719 | 0.804401214385 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1163231523 |
-0.365 | 1.0 | D | 0.768 | 0.719 | 0.804401214385 | gnomAD-4.0.0 | 1.60561E-06 | None | None | None | None | I | None | 0 | 2.28676E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs1163231523 |
-0.039 | 1.0 | D | 0.793 | 0.735 | 0.735466501022 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs1163231523 |
-0.039 | 1.0 | D | 0.793 | 0.735 | 0.735466501022 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs1163231523 |
-0.039 | 1.0 | D | 0.793 | 0.735 | 0.735466501022 | gnomAD-4.0.0 | 6.5697E-06 | None | None | None | None | I | None | 2.41185E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9337 | likely_pathogenic | 0.9464 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.569355929 | None | None | I |
| P/C | 0.9919 | likely_pathogenic | 0.993 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| P/D | 0.9888 | likely_pathogenic | 0.9891 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| P/E | 0.9831 | likely_pathogenic | 0.9855 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| P/F | 0.994 | likely_pathogenic | 0.9948 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| P/G | 0.986 | likely_pathogenic | 0.987 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| P/H | 0.9638 | likely_pathogenic | 0.97 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.631976756 | None | None | I |
| P/I | 0.9467 | likely_pathogenic | 0.9515 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| P/K | 0.9701 | likely_pathogenic | 0.9748 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| P/L | 0.8757 | likely_pathogenic | 0.898 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.768 | deleterious | D | 0.606670809 | None | None | I |
| P/M | 0.9735 | likely_pathogenic | 0.977 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| P/N | 0.9821 | likely_pathogenic | 0.9848 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| P/Q | 0.9646 | likely_pathogenic | 0.9704 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| P/R | 0.9482 | likely_pathogenic | 0.9557 | pathogenic | -0.022 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.657111259 | None | None | I |
| P/S | 0.9744 | likely_pathogenic | 0.9796 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.56884895 | None | None | I |
| P/T | 0.9378 | likely_pathogenic | 0.9499 | pathogenic | -0.667 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.641091898 | None | None | I |
| P/V | 0.9256 | likely_pathogenic | 0.9367 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| P/W | 0.998 | likely_pathogenic | 0.9979 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| P/Y | 0.9914 | likely_pathogenic | 0.992 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | 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.