Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26093 | 78502;78503;78504 | chr2:178567855;178567854;178567853 | chr2:179432582;179432581;179432580 |
| N2AB | 24452 | 73579;73580;73581 | chr2:178567855;178567854;178567853 | chr2:179432582;179432581;179432580 |
| N2A | 23525 | 70798;70799;70800 | chr2:178567855;178567854;178567853 | chr2:179432582;179432581;179432580 |
| N2B | 17028 | 51307;51308;51309 | chr2:178567855;178567854;178567853 | chr2:179432582;179432581;179432580 |
| Novex-1 | 17153 | 51682;51683;51684 | chr2:178567855;178567854;178567853 | chr2:179432582;179432581;179432580 |
| Novex-2 | 17220 | 51883;51884;51885 | chr2:178567855;178567854;178567853 | chr2:179432582;179432581;179432580 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs757813739  |
-0.679 | 1.0 | N | 0.795 | 0.492 | 0.491996647052 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.95E-05 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| G/R | rs757813739 |
-0.679 | 1.0 | N | 0.795 | 0.492 | 0.491996647052 | 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 |
| G/R | rs757813739 |
-0.679 | 1.0 | N | 0.795 | 0.492 | 0.491996647052 | gnomAD-4.0.0 | 6.19836E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.37929E-05 | 0 | None | 0 | 0 | 7.62978E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4734 | ambiguous | 0.4592 | ambiguous | -0.83 | Destabilizing | 1.0 | D | 0.61 | neutral | N | 0.481168154 | None | None | N |
| G/C | 0.7646 | likely_pathogenic | 0.73 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| G/D | 0.8181 | likely_pathogenic | 0.8287 | pathogenic | -1.957 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| G/E | 0.8155 | likely_pathogenic | 0.803 | pathogenic | -1.95 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.473860319 | None | None | N |
| G/F | 0.9547 | likely_pathogenic | 0.9503 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/H | 0.9308 | likely_pathogenic | 0.9167 | pathogenic | -1.712 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/I | 0.9302 | likely_pathogenic | 0.9089 | pathogenic | -0.23 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/K | 0.9172 | likely_pathogenic | 0.8929 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/L | 0.9147 | likely_pathogenic | 0.8996 | pathogenic | -0.23 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/M | 0.9272 | likely_pathogenic | 0.9093 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| G/N | 0.8365 | likely_pathogenic | 0.8313 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| G/P | 0.9908 | likely_pathogenic | 0.9923 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/Q | 0.8445 | likely_pathogenic | 0.8104 | pathogenic | -1.364 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/R | 0.8547 | likely_pathogenic | 0.8138 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.508416524 | None | None | N |
| G/S | 0.3093 | likely_benign | 0.2895 | benign | -1.491 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| G/T | 0.6603 | likely_pathogenic | 0.6069 | pathogenic | -1.4 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/V | 0.8497 | likely_pathogenic | 0.816 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.493538418 | None | None | N |
| G/W | 0.9526 | likely_pathogenic | 0.9489 | pathogenic | -1.613 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/Y | 0.9382 | likely_pathogenic | 0.9305 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.793 | 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.