Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22928 | 69007;69008;69009 | chr2:178577644;178577643;178577642 | chr2:179442371;179442370;179442369 |
| N2AB | 21287 | 64084;64085;64086 | chr2:178577644;178577643;178577642 | chr2:179442371;179442370;179442369 |
| N2A | 20360 | 61303;61304;61305 | chr2:178577644;178577643;178577642 | chr2:179442371;179442370;179442369 |
| N2B | 13863 | 41812;41813;41814 | chr2:178577644;178577643;178577642 | chr2:179442371;179442370;179442369 |
| Novex-1 | 13988 | 42187;42188;42189 | chr2:178577644;178577643;178577642 | chr2:179442371;179442370;179442369 |
| Novex-2 | 14055 | 42388;42389;42390 | chr2:178577644;178577643;178577642 | chr2:179442371;179442370;179442369 |
| 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/S | rs1206552803  |
-1.623 | 1.0 | N | 0.746 | 0.365 | 0.366848117066 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| P/S | rs1206552803 |
-1.623 | 1.0 | N | 0.746 | 0.365 | 0.366848117066 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs1206552803 |
-1.623 | 1.0 | N | 0.746 | 0.365 | 0.366848117066 | gnomAD-4.0.0 | 2.566E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.79063E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1082 | likely_benign | 0.1268 | benign | -1.391 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.486293034 | None | None | N |
| P/C | 0.7363 | likely_pathogenic | 0.7741 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| P/D | 0.8867 | likely_pathogenic | 0.9235 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| P/E | 0.7525 | likely_pathogenic | 0.821 | pathogenic | -1.307 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| P/F | 0.7383 | likely_pathogenic | 0.7915 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/G | 0.5693 | likely_pathogenic | 0.6142 | pathogenic | -1.613 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| P/H | 0.5745 | likely_pathogenic | 0.6438 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/I | 0.6432 | likely_pathogenic | 0.7021 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/K | 0.8452 | likely_pathogenic | 0.8791 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| P/L | 0.3773 | ambiguous | 0.4323 | ambiguous | -0.909 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.529996736 | None | None | N |
| P/M | 0.6791 | likely_pathogenic | 0.7348 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/N | 0.8166 | likely_pathogenic | 0.8676 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| P/Q | 0.5696 | likely_pathogenic | 0.6529 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.531771163 | None | None | N |
| P/R | 0.7047 | likely_pathogenic | 0.7533 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.538012133 | None | None | N |
| P/S | 0.2747 | likely_benign | 0.3333 | benign | -1.181 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.51914741 | None | None | N |
| P/T | 0.3409 | ambiguous | 0.4015 | ambiguous | -1.161 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.549621928 | None | None | N |
| P/V | 0.4655 | ambiguous | 0.5202 | ambiguous | -1.036 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/W | 0.868 | likely_pathogenic | 0.9047 | pathogenic | -1.383 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| P/Y | 0.7465 | likely_pathogenic | 0.7961 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.858 | 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.