Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8896 | 26911;26912;26913 | chr2:178713972;178713971;178713970 | chr2:179578699;179578698;179578697 |
| N2AB | 8579 | 25960;25961;25962 | chr2:178713972;178713971;178713970 | chr2:179578699;179578698;179578697 |
| N2A | 7652 | 23179;23180;23181 | chr2:178713972;178713971;178713970 | chr2:179578699;179578698;179578697 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1198151007  |
-0.193 | 1.0 | D | 0.58 | 0.732 | 0.733745208057 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65618E-04 |
| D/E | rs1198151007 |
-0.193 | 1.0 | D | 0.58 | 0.732 | 0.733745208057 | gnomAD-4.0.0 | 1.59171E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02554E-05 |
| D/G | None | None | 1.0 | D | 0.776 | 0.88 | 0.685509544888 | gnomAD-4.0.0 | 1.59162E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85881E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7717 | likely_pathogenic | 0.9058 | pathogenic | 0.253 | Stabilizing | 1.0 | D | 0.847 | deleterious | D | 0.635514562 | None | None | N |
| D/C | 0.9034 | likely_pathogenic | 0.9623 | pathogenic | 0.254 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/E | 0.7067 | likely_pathogenic | 0.8571 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.58 | neutral | D | 0.618284376 | None | None | N |
| D/F | 0.9498 | likely_pathogenic | 0.9852 | pathogenic | 0.944 | Stabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| D/G | 0.8066 | likely_pathogenic | 0.9268 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.645235117 | None | None | N |
| D/H | 0.7258 | likely_pathogenic | 0.86 | pathogenic | 0.587 | Stabilizing | 1.0 | D | 0.833 | deleterious | D | 0.584145454 | None | None | N |
| D/I | 0.9233 | likely_pathogenic | 0.9786 | pathogenic | 1.493 | Stabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| D/K | 0.9456 | likely_pathogenic | 0.9772 | pathogenic | 0.22 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| D/L | 0.934 | likely_pathogenic | 0.9814 | pathogenic | 1.493 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/M | 0.9578 | likely_pathogenic | 0.9892 | pathogenic | 1.877 | Stabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| D/N | 0.4598 | ambiguous | 0.6429 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.611147992 | None | None | N |
| D/P | 0.9908 | likely_pathogenic | 0.9967 | pathogenic | 1.109 | Stabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| D/Q | 0.8719 | likely_pathogenic | 0.9469 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| D/R | 0.9493 | likely_pathogenic | 0.9801 | pathogenic | 0.253 | Stabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| D/S | 0.5582 | ambiguous | 0.7608 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| D/T | 0.851 | likely_pathogenic | 0.9407 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/V | 0.8254 | likely_pathogenic | 0.9407 | pathogenic | 1.109 | Stabilizing | 1.0 | D | 0.855 | deleterious | D | 0.661658087 | None | None | N |
| D/W | 0.9908 | likely_pathogenic | 0.9977 | pathogenic | 1.039 | Stabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| D/Y | 0.7479 | likely_pathogenic | 0.9092 | pathogenic | 1.228 | Stabilizing | 1.0 | D | 0.865 | deleterious | D | 0.661456283 | 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.