Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30203 | 90832;90833;90834 | chr2:178552293;178552292;178552291 | chr2:179417020;179417019;179417018 |
| N2AB | 28562 | 85909;85910;85911 | chr2:178552293;178552292;178552291 | chr2:179417020;179417019;179417018 |
| N2A | 27635 | 83128;83129;83130 | chr2:178552293;178552292;178552291 | chr2:179417020;179417019;179417018 |
| N2B | 21138 | 63637;63638;63639 | chr2:178552293;178552292;178552291 | chr2:179417020;179417019;179417018 |
| Novex-1 | 21263 | 64012;64013;64014 | chr2:178552293;178552292;178552291 | chr2:179417020;179417019;179417018 |
| Novex-2 | 21330 | 64213;64214;64215 | chr2:178552293;178552292;178552291 | chr2:179417020;179417019;179417018 |
| 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/S | None | None | 0.716 | N | 0.451 | 0.108 | 0.173771789658 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| T/S | None | None | 0.716 | N | 0.451 | 0.108 | 0.173771789658 | gnomAD-4.0.0 | 4.791E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29723E-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 | 0.1291 | likely_benign | 0.135 | benign | -1.31 | Destabilizing | 0.016 | N | 0.335 | neutral | N | 0.468230643 | None | None | N |
| T/C | 0.4347 | ambiguous | 0.464 | ambiguous | -0.753 | Destabilizing | 0.994 | D | 0.739 | prob.delet. | None | None | None | None | N |
| T/D | 0.5577 | ambiguous | 0.5864 | pathogenic | -1.539 | Destabilizing | 0.979 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/E | 0.4215 | ambiguous | 0.4293 | ambiguous | -1.295 | Destabilizing | 0.959 | D | 0.673 | neutral | None | None | None | None | N |
| T/F | 0.4099 | ambiguous | 0.4161 | ambiguous | -0.899 | Destabilizing | 0.979 | D | 0.789 | deleterious | None | None | None | None | N |
| T/G | 0.397 | ambiguous | 0.4203 | ambiguous | -1.726 | Destabilizing | 0.769 | D | 0.595 | neutral | None | None | None | None | N |
| T/H | 0.3578 | ambiguous | 0.3862 | ambiguous | -1.684 | Destabilizing | 0.998 | D | 0.771 | deleterious | None | None | None | None | N |
| T/I | 0.2299 | likely_benign | 0.2243 | benign | -0.194 | Destabilizing | 0.946 | D | 0.729 | prob.delet. | N | 0.466242407 | None | None | N |
| T/K | 0.4022 | ambiguous | 0.4188 | ambiguous | -0.275 | Destabilizing | 0.959 | D | 0.667 | neutral | None | None | None | None | N |
| T/L | 0.1505 | likely_benign | 0.1656 | benign | -0.194 | Destabilizing | 0.769 | D | 0.5 | neutral | None | None | None | None | N |
| T/M | 0.1056 | likely_benign | 0.1126 | benign | -0.426 | Destabilizing | 0.994 | D | 0.741 | deleterious | None | None | None | None | N |
| T/N | 0.1713 | likely_benign | 0.1887 | benign | -1.027 | Destabilizing | 0.973 | D | 0.672 | neutral | N | 0.484386341 | None | None | N |
| T/P | 0.8375 | likely_pathogenic | 0.8384 | pathogenic | -0.539 | Destabilizing | 0.973 | D | 0.747 | deleterious | N | 0.507517026 | None | None | N |
| T/Q | 0.3234 | likely_benign | 0.3474 | ambiguous | -0.718 | Destabilizing | 0.979 | D | 0.765 | deleterious | None | None | None | None | N |
| T/R | 0.3292 | likely_benign | 0.3602 | ambiguous | -0.621 | Destabilizing | 0.959 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/S | 0.1387 | likely_benign | 0.1519 | benign | -1.253 | Destabilizing | 0.716 | D | 0.451 | neutral | N | 0.490150476 | None | None | N |
| T/V | 0.1753 | likely_benign | 0.1757 | benign | -0.539 | Destabilizing | 0.769 | D | 0.432 | neutral | None | None | None | None | N |
| T/W | 0.7547 | likely_pathogenic | 0.767 | pathogenic | -1.073 | Destabilizing | 0.998 | D | 0.755 | deleterious | None | None | None | None | N |
| T/Y | 0.3699 | ambiguous | 0.3838 | ambiguous | -0.666 | Destabilizing | 0.993 | D | 0.787 | 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.