Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9441 | 28546;28547;28548 | chr2:178710776;178710775;178710774 | chr2:179575503;179575502;179575501 |
| N2AB | 9124 | 27595;27596;27597 | chr2:178710776;178710775;178710774 | chr2:179575503;179575502;179575501 |
| N2A | 8197 | 24814;24815;24816 | chr2:178710776;178710775;178710774 | chr2:179575503;179575502;179575501 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.103 | None | 0.284 | 0.168 | 0.16115917748 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| G/R | rs397517529  |
-0.067 | 0.988 | None | 0.449 | 0.26 | 0.399017061211 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11297E-04 | None | 3.27E-05 | None | 0 | 0 | 1.65399E-04 |
| G/R | rs397517529 |
-0.067 | 0.988 | None | 0.449 | 0.26 | 0.399017061211 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs397517529 |
-0.067 | 0.988 | None | 0.449 | 0.26 | 0.399017061211 | gnomAD-4.0.0 | 8.05581E-06 | None | None | None | None | N | None | 1.33529E-05 | 0 | None | 0 | 2.22846E-05 | None | 0 | 0 | 5.93293E-06 | 3.29381E-05 | 1.60087E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2108 | likely_benign | 0.213 | benign | -0.281 | Destabilizing | 0.103 | N | 0.284 | neutral | None | None | None | None | N |
| G/C | 0.4658 | ambiguous | 0.5516 | ambiguous | -0.955 | Destabilizing | 0.999 | D | 0.566 | neutral | None | None | None | None | N |
| G/D | 0.3519 | ambiguous | 0.31 | benign | -0.22 | Destabilizing | 0.851 | D | 0.339 | neutral | None | None | None | None | N |
| G/E | 0.3381 | likely_benign | 0.2898 | benign | -0.34 | Destabilizing | 0.211 | N | 0.315 | neutral | None | None | None | None | N |
| G/F | 0.6956 | likely_pathogenic | 0.7178 | pathogenic | -0.86 | Destabilizing | 0.999 | D | 0.535 | neutral | None | None | None | None | N |
| G/H | 0.4928 | ambiguous | 0.5475 | ambiguous | -0.282 | Destabilizing | 0.999 | D | 0.463 | neutral | None | None | None | None | N |
| G/I | 0.4028 | ambiguous | 0.4281 | ambiguous | -0.383 | Destabilizing | 0.988 | D | 0.543 | neutral | None | None | None | None | N |
| G/K | 0.4115 | ambiguous | 0.4784 | ambiguous | -0.633 | Destabilizing | 0.076 | N | 0.323 | neutral | None | None | None | None | N |
| G/L | 0.5375 | ambiguous | 0.567 | pathogenic | -0.383 | Destabilizing | 0.976 | D | 0.525 | neutral | None | None | None | None | N |
| G/M | 0.5674 | likely_pathogenic | 0.6109 | pathogenic | -0.708 | Destabilizing | 0.999 | D | 0.537 | neutral | None | None | None | None | N |
| G/N | 0.3007 | likely_benign | 0.3235 | benign | -0.407 | Destabilizing | 0.976 | D | 0.352 | neutral | None | None | None | None | N |
| G/P | 0.7122 | likely_pathogenic | 0.7408 | pathogenic | -0.32 | Destabilizing | 0.076 | N | 0.351 | neutral | None | None | None | None | N |
| G/Q | 0.3266 | likely_benign | 0.3623 | ambiguous | -0.572 | Destabilizing | 0.976 | D | 0.446 | neutral | None | None | None | None | N |
| G/R | 0.2859 | likely_benign | 0.3116 | benign | -0.295 | Destabilizing | 0.988 | D | 0.449 | neutral | None | None | None | None | N |
| G/S | 0.1138 | likely_benign | 0.1161 | benign | -0.626 | Destabilizing | 0.851 | D | 0.367 | neutral | None | None | None | None | N |
| G/T | 0.2534 | likely_benign | 0.2583 | benign | -0.659 | Destabilizing | 0.976 | D | 0.409 | neutral | None | None | None | None | N |
| G/V | 0.3121 | likely_benign | 0.3317 | benign | -0.32 | Destabilizing | 0.968 | D | 0.517 | neutral | None | None | None | None | N |
| G/W | 0.4936 | ambiguous | 0.5418 | ambiguous | -1.0 | Destabilizing | 0.999 | D | 0.531 | neutral | None | None | None | None | N |
| G/Y | 0.5686 | likely_pathogenic | 0.6012 | pathogenic | -0.671 | Destabilizing | 0.999 | D | 0.535 | 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.