Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20038 | 60337;60338;60339 | chr2:178591707;178591706;178591705 | chr2:179456434;179456433;179456432 |
| N2AB | 18397 | 55414;55415;55416 | chr2:178591707;178591706;178591705 | chr2:179456434;179456433;179456432 |
| N2A | 17470 | 52633;52634;52635 | chr2:178591707;178591706;178591705 | chr2:179456434;179456433;179456432 |
| N2B | 10973 | 33142;33143;33144 | chr2:178591707;178591706;178591705 | chr2:179456434;179456433;179456432 |
| Novex-1 | 11098 | 33517;33518;33519 | chr2:178591707;178591706;178591705 | chr2:179456434;179456433;179456432 |
| Novex-2 | 11165 | 33718;33719;33720 | chr2:178591707;178591706;178591705 | chr2:179456434;179456433;179456432 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.999 | N | 0.539 | 0.441 | 0.359963025489 | gnomAD-4.0.0 | 1.59194E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85953E-06 | 0 | 0 |
| T/I | None | None | 1.0 | N | 0.796 | 0.485 | 0.494769474416 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1075 | likely_benign | 0.1099 | benign | -0.554 | Destabilizing | 0.999 | D | 0.539 | neutral | N | 0.475157901 | None | None | N |
| T/C | 0.5076 | ambiguous | 0.5657 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| T/D | 0.4012 | ambiguous | 0.42 | ambiguous | 0.605 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| T/E | 0.2585 | likely_benign | 0.2745 | benign | 0.584 | Stabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| T/F | 0.386 | ambiguous | 0.3905 | ambiguous | -0.918 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| T/G | 0.2829 | likely_benign | 0.2919 | benign | -0.732 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| T/H | 0.2835 | likely_benign | 0.2955 | benign | -0.825 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| T/I | 0.2566 | likely_benign | 0.2596 | benign | -0.191 | Destabilizing | 1.0 | D | 0.796 | deleterious | N | 0.478564942 | None | None | N |
| T/K | 0.1642 | likely_benign | 0.1668 | benign | -0.233 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| T/L | 0.1442 | likely_benign | 0.1517 | benign | -0.191 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | N |
| T/M | 0.1173 | likely_benign | 0.1159 | benign | -0.252 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| T/N | 0.1415 | likely_benign | 0.1442 | benign | -0.214 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.470358508 | None | None | N |
| T/P | 0.1397 | likely_benign | 0.1602 | benign | -0.282 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.522484686 | None | None | N |
| T/Q | 0.2192 | likely_benign | 0.225 | benign | -0.306 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| T/R | 0.1655 | likely_benign | 0.1761 | benign | -0.03 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| T/S | 0.1212 | likely_benign | 0.1219 | benign | -0.54 | Destabilizing | 0.999 | D | 0.525 | neutral | N | 0.488062681 | None | None | N |
| T/V | 0.185 | likely_benign | 0.1945 | benign | -0.282 | Destabilizing | 0.999 | D | 0.593 | neutral | None | None | None | None | N |
| T/W | 0.6787 | likely_pathogenic | 0.6981 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| T/Y | 0.3804 | ambiguous | 0.4094 | ambiguous | -0.607 | Destabilizing | 1.0 | D | 0.808 | 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.