Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13704 | 41335;41336;41337 | chr2:178636617;178636616;178636615 | chr2:179501344;179501343;179501342 |
| N2AB | 12063 | 36412;36413;36414 | chr2:178636617;178636616;178636615 | chr2:179501344;179501343;179501342 |
| N2A | 11136 | 33631;33632;33633 | chr2:178636617;178636616;178636615 | chr2:179501344;179501343;179501342 |
| N2B | 4639 | 14140;14141;14142 | chr2:178636617;178636616;178636615 | chr2:179501344;179501343;179501342 |
| Novex-1 | 4764 | 14515;14516;14517 | chr2:178636617;178636616;178636615 | chr2:179501344;179501343;179501342 |
| Novex-2 | 4831 | 14716;14717;14718 | chr2:178636617;178636616;178636615 | chr2:179501344;179501343;179501342 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1259815299  |
-1.357 | 1.0 | N | 0.761 | 0.303 | 0.345632371893 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.87853E-04 | 0 | 0 |
| A/T | rs1259815299 |
-1.357 | 1.0 | N | 0.761 | 0.303 | 0.345632371893 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 1.88359E-04 | 0 | 0 | 0 | 0 |
| A/T | rs1259815299 |
-1.357 | 1.0 | N | 0.761 | 0.303 | 0.345632371893 | gnomAD-4.0.0 | 3.71907E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 7.81128E-05 | 0 | 8.47746E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8498 | likely_pathogenic | 0.929 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/D | 0.9966 | likely_pathogenic | 0.9987 | pathogenic | -1.456 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/E | 0.9916 | likely_pathogenic | 0.9972 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.672974703 | None | None | N |
| A/F | 0.9689 | likely_pathogenic | 0.9867 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| A/G | 0.5483 | ambiguous | 0.6737 | pathogenic | -1.308 | Destabilizing | 1.0 | D | 0.627 | neutral | D | 0.582718623 | None | None | N |
| A/H | 0.993 | likely_pathogenic | 0.9977 | pathogenic | -1.598 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/I | 0.8532 | likely_pathogenic | 0.9279 | pathogenic | 0.448 | Stabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| A/K | 0.9953 | likely_pathogenic | 0.9987 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/L | 0.8172 | likely_pathogenic | 0.887 | pathogenic | 0.448 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| A/M | 0.9131 | likely_pathogenic | 0.9602 | pathogenic | 0.259 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/N | 0.9886 | likely_pathogenic | 0.9958 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/P | 0.9916 | likely_pathogenic | 0.9947 | pathogenic | 0.067 | Stabilizing | 1.0 | D | 0.869 | deleterious | D | 0.634780729 | None | None | N |
| A/Q | 0.9795 | likely_pathogenic | 0.9928 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/R | 0.9831 | likely_pathogenic | 0.9936 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| A/S | 0.4913 | ambiguous | 0.6501 | pathogenic | -1.608 | Destabilizing | 1.0 | D | 0.631 | neutral | D | 0.582718623 | None | None | N |
| A/T | 0.6003 | likely_pathogenic | 0.7945 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.509549241 | None | None | N |
| A/V | 0.5259 | ambiguous | 0.7168 | pathogenic | 0.067 | Stabilizing | 1.0 | D | 0.665 | neutral | N | 0.431124531 | None | None | N |
| A/W | 0.9985 | likely_pathogenic | 0.9996 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/Y | 0.99 | likely_pathogenic | 0.9963 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.885 | 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.