Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24634 | 74125;74126;74127 | chr2:178572232;178572231;178572230 | chr2:179436959;179436958;179436957 |
| N2AB | 22993 | 69202;69203;69204 | chr2:178572232;178572231;178572230 | chr2:179436959;179436958;179436957 |
| N2A | 22066 | 66421;66422;66423 | chr2:178572232;178572231;178572230 | chr2:179436959;179436958;179436957 |
| N2B | 15569 | 46930;46931;46932 | chr2:178572232;178572231;178572230 | chr2:179436959;179436958;179436957 |
| Novex-1 | 15694 | 47305;47306;47307 | chr2:178572232;178572231;178572230 | chr2:179436959;179436958;179436957 |
| Novex-2 | 15761 | 47506;47507;47508 | chr2:178572232;178572231;178572230 | chr2:179436959;179436958;179436957 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | rs1387907795  |
-0.259 | 0.984 | N | 0.601 | 0.318 | 0.390531646278 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| S/P | rs1387907795 |
-0.259 | 0.984 | N | 0.601 | 0.318 | 0.390531646278 | gnomAD-4.0.0 | 1.59208E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85946E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1038 | likely_benign | 0.0979 | benign | -0.732 | Destabilizing | 0.119 | N | 0.423 | neutral | N | 0.48544645 | None | None | N |
| S/C | 0.1159 | likely_benign | 0.109 | benign | -0.733 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| S/D | 0.6913 | likely_pathogenic | 0.6546 | pathogenic | -1.051 | Destabilizing | 0.921 | D | 0.513 | neutral | None | None | None | None | N |
| S/E | 0.7277 | likely_pathogenic | 0.7132 | pathogenic | -1.001 | Destabilizing | 0.943 | D | 0.509 | neutral | None | None | None | None | N |
| S/F | 0.2052 | likely_benign | 0.1909 | benign | -0.856 | Destabilizing | 0.997 | D | 0.678 | prob.neutral | None | None | None | None | N |
| S/G | 0.1661 | likely_benign | 0.1428 | benign | -1.012 | Destabilizing | 0.956 | D | 0.517 | neutral | None | None | None | None | N |
| S/H | 0.3451 | ambiguous | 0.3327 | benign | -1.513 | Destabilizing | 1.0 | D | 0.636 | neutral | None | None | None | None | N |
| S/I | 0.1534 | likely_benign | 0.1423 | benign | -0.078 | Destabilizing | 0.987 | D | 0.627 | neutral | None | None | None | None | N |
| S/K | 0.6932 | likely_pathogenic | 0.6583 | pathogenic | -0.698 | Destabilizing | 0.978 | D | 0.512 | neutral | None | None | None | None | N |
| S/L | 0.1024 | likely_benign | 0.0883 | benign | -0.078 | Destabilizing | 0.943 | D | 0.582 | neutral | N | 0.496239447 | None | None | N |
| S/M | 0.1653 | likely_benign | 0.1505 | benign | 0.1 | Stabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| S/N | 0.2087 | likely_benign | 0.1867 | benign | -0.924 | Destabilizing | 0.579 | D | 0.529 | neutral | None | None | None | None | N |
| S/P | 0.947 | likely_pathogenic | 0.9326 | pathogenic | -0.262 | Destabilizing | 0.984 | D | 0.601 | neutral | N | 0.486652337 | None | None | N |
| S/Q | 0.5173 | ambiguous | 0.5095 | ambiguous | -1.043 | Destabilizing | 0.997 | D | 0.573 | neutral | None | None | None | None | N |
| S/R | 0.6152 | likely_pathogenic | 0.5799 | pathogenic | -0.664 | Destabilizing | 0.994 | D | 0.598 | neutral | None | None | None | None | N |
| S/T | 0.0715 | likely_benign | 0.0605 | benign | -0.791 | Destabilizing | None | N | 0.282 | neutral | N | 0.380297711 | None | None | N |
| S/V | 0.1626 | likely_benign | 0.1497 | benign | -0.262 | Destabilizing | 0.891 | D | 0.576 | neutral | None | None | None | None | N |
| S/W | 0.4141 | ambiguous | 0.4052 | ambiguous | -0.912 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| S/Y | 0.2242 | likely_benign | 0.2168 | benign | -0.578 | Destabilizing | 0.997 | D | 0.687 | prob.neutral | 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.