Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23686 | 71281;71282;71283 | chr2:178575076;178575075;178575074 | chr2:179439803;179439802;179439801 |
| N2AB | 22045 | 66358;66359;66360 | chr2:178575076;178575075;178575074 | chr2:179439803;179439802;179439801 |
| N2A | 21118 | 63577;63578;63579 | chr2:178575076;178575075;178575074 | chr2:179439803;179439802;179439801 |
| N2B | 14621 | 44086;44087;44088 | chr2:178575076;178575075;178575074 | chr2:179439803;179439802;179439801 |
| Novex-1 | 14746 | 44461;44462;44463 | chr2:178575076;178575075;178575074 | chr2:179439803;179439802;179439801 |
| Novex-2 | 14813 | 44662;44663;44664 | chr2:178575076;178575075;178575074 | chr2:179439803;179439802;179439801 |
| 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/V | rs55903402  |
0.06 | 0.98 | N | 0.327 | 0.152 | None | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 4.13E-05 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 4E-05 | 3.13E-05 | 0 |
| A/V | rs55903402 |
0.06 | 0.98 | N | 0.327 | 0.152 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 5.88E-05 | 2.07211E-04 | 0 |
| A/V | rs55903402 |
0.06 | 0.98 | N | 0.327 | 0.152 | None | gnomAD-4.0.0 | 2.2316E-05 | None | None | None | None | N | None | 2.67037E-05 | 1.6675E-05 | None | 0 | 0 | None | 4.68838E-05 | 0 | 2.03461E-05 | 2.19631E-05 | 6.40718E-05 |
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 | 0.4363 | ambiguous | 0.4606 | ambiguous | -0.757 | Destabilizing | 0.999 | D | 0.349 | neutral | None | None | None | None | N |
| A/D | 0.2151 | likely_benign | 0.1994 | benign | -0.33 | Destabilizing | 0.976 | D | 0.427 | neutral | None | None | None | None | N |
| A/E | 0.2032 | likely_benign | 0.1919 | benign | -0.477 | Destabilizing | 0.916 | D | 0.352 | neutral | N | 0.439756154 | None | None | N |
| A/F | 0.3623 | ambiguous | 0.3648 | ambiguous | -0.828 | Destabilizing | 0.996 | D | 0.493 | neutral | None | None | None | None | N |
| A/G | 0.1192 | likely_benign | 0.1206 | benign | -0.121 | Destabilizing | 0.916 | D | 0.324 | neutral | N | 0.414201562 | None | None | N |
| A/H | 0.4034 | ambiguous | 0.4003 | ambiguous | -0.173 | Destabilizing | 0.997 | D | 0.501 | neutral | None | None | None | None | N |
| A/I | 0.197 | likely_benign | 0.2018 | benign | -0.315 | Destabilizing | 0.976 | D | 0.355 | neutral | None | None | None | None | N |
| A/K | 0.3602 | ambiguous | 0.3511 | ambiguous | -0.369 | Destabilizing | 0.851 | D | 0.373 | neutral | None | None | None | None | N |
| A/L | 0.1416 | likely_benign | 0.1459 | benign | -0.315 | Destabilizing | 0.919 | D | 0.369 | neutral | None | None | None | None | N |
| A/M | 0.1835 | likely_benign | 0.1886 | benign | -0.435 | Destabilizing | 0.999 | D | 0.363 | neutral | None | None | None | None | N |
| A/N | 0.1566 | likely_benign | 0.1605 | benign | -0.098 | Destabilizing | 0.976 | D | 0.447 | neutral | None | None | None | None | N |
| A/P | 0.0953 | likely_benign | 0.0934 | benign | -0.227 | Destabilizing | 0.984 | D | 0.357 | neutral | N | 0.452648094 | None | None | N |
| A/Q | 0.2637 | likely_benign | 0.2603 | benign | -0.338 | Destabilizing | 0.307 | N | 0.277 | neutral | None | None | None | None | N |
| A/R | 0.3832 | ambiguous | 0.3693 | ambiguous | -0.004 | Destabilizing | 0.976 | D | 0.337 | neutral | None | None | None | None | N |
| A/S | 0.0793 | likely_benign | 0.0792 | benign | -0.294 | Destabilizing | 0.103 | N | 0.266 | neutral | N | 0.414167063 | None | None | N |
| A/T | 0.0776 | likely_benign | 0.0783 | benign | -0.366 | Destabilizing | 0.103 | N | 0.255 | neutral | N | 0.47642903 | None | None | N |
| A/V | 0.112 | likely_benign | 0.1119 | benign | -0.227 | Destabilizing | 0.98 | D | 0.327 | neutral | N | 0.4872621 | None | None | N |
| A/W | 0.6991 | likely_pathogenic | 0.6968 | pathogenic | -0.94 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| A/Y | 0.4328 | ambiguous | 0.4358 | ambiguous | -0.61 | Destabilizing | 0.996 | D | 0.494 | 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.