Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35622 | 107089;107090;107091 | chr2:178528887;178528886;178528885 | chr2:179393614;179393613;179393612 |
| N2AB | 33981 | 102166;102167;102168 | chr2:178528887;178528886;178528885 | chr2:179393614;179393613;179393612 |
| N2A | 33054 | 99385;99386;99387 | chr2:178528887;178528886;178528885 | chr2:179393614;179393613;179393612 |
| N2B | 26557 | 79894;79895;79896 | chr2:178528887;178528886;178528885 | chr2:179393614;179393613;179393612 |
| Novex-1 | 26682 | 80269;80270;80271 | chr2:178528887;178528886;178528885 | chr2:179393614;179393613;179393612 |
| Novex-2 | 26749 | 80470;80471;80472 | chr2:178528887;178528886;178528885 | chr2:179393614;179393613;179393612 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs748846449  |
-0.489 | 0.992 | N | 0.393 | 0.246 | 0.162503812791 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| Q/E | rs748846449 |
-0.489 | 0.992 | N | 0.393 | 0.246 | 0.162503812791 | gnomAD-4.0.0 | 1.59089E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85755E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3579 | ambiguous | 0.4841 | ambiguous | -0.512 | Destabilizing | 0.997 | D | 0.461 | neutral | None | None | None | None | N |
| Q/C | 0.8728 | likely_pathogenic | 0.9257 | pathogenic | 0.124 | Stabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| Q/D | 0.3532 | ambiguous | 0.4851 | ambiguous | -0.121 | Destabilizing | 0.997 | D | 0.527 | neutral | None | None | None | None | N |
| Q/E | 0.0719 | likely_benign | 0.1114 | benign | -0.094 | Destabilizing | 0.992 | D | 0.393 | neutral | N | 0.458571202 | None | None | N |
| Q/F | 0.8779 | likely_pathogenic | 0.9011 | pathogenic | -0.494 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | N |
| Q/G | 0.3372 | likely_benign | 0.4638 | ambiguous | -0.787 | Destabilizing | 0.997 | D | 0.587 | neutral | None | None | None | None | N |
| Q/H | 0.3893 | ambiguous | 0.464 | ambiguous | -0.77 | Destabilizing | 0.999 | D | 0.659 | neutral | N | 0.463078518 | None | None | N |
| Q/I | 0.6349 | likely_pathogenic | 0.7248 | pathogenic | 0.15 | Stabilizing | 0.999 | D | 0.792 | deleterious | None | None | None | None | N |
| Q/K | 0.1267 | likely_benign | 0.165 | benign | -0.093 | Destabilizing | 0.997 | D | 0.452 | neutral | N | 0.461691651 | None | None | N |
| Q/L | 0.3169 | likely_benign | 0.3833 | ambiguous | 0.15 | Stabilizing | 0.997 | D | 0.587 | neutral | N | 0.463425235 | None | None | N |
| Q/M | 0.5456 | ambiguous | 0.593 | pathogenic | 0.598 | Stabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | N |
| Q/N | 0.3398 | likely_benign | 0.4258 | ambiguous | -0.522 | Destabilizing | 0.999 | D | 0.63 | neutral | None | None | None | None | N |
| Q/P | 0.5344 | ambiguous | 0.688 | pathogenic | -0.04 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | N | 0.463251876 | None | None | N |
| Q/R | 0.1892 | likely_benign | 0.252 | benign | -0.023 | Destabilizing | 0.997 | D | 0.511 | neutral | N | 0.462731801 | None | None | N |
| Q/S | 0.3481 | ambiguous | 0.428 | ambiguous | -0.578 | Destabilizing | 0.997 | D | 0.461 | neutral | None | None | None | None | N |
| Q/T | 0.337 | likely_benign | 0.4366 | ambiguous | -0.368 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| Q/V | 0.4674 | ambiguous | 0.5834 | pathogenic | -0.04 | Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| Q/W | 0.8006 | likely_pathogenic | 0.8374 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| Q/Y | 0.7156 | likely_pathogenic | 0.7472 | pathogenic | -0.155 | Destabilizing | 0.999 | D | 0.697 | 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.