Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18527 | 55804;55805;55806 | chr2:178601418;178601417;178601416 | chr2:179466145;179466144;179466143 |
| N2AB | 16886 | 50881;50882;50883 | chr2:178601418;178601417;178601416 | chr2:179466145;179466144;179466143 |
| N2A | 15959 | 48100;48101;48102 | chr2:178601418;178601417;178601416 | chr2:179466145;179466144;179466143 |
| N2B | 9462 | 28609;28610;28611 | chr2:178601418;178601417;178601416 | chr2:179466145;179466144;179466143 |
| Novex-1 | 9587 | 28984;28985;28986 | chr2:178601418;178601417;178601416 | chr2:179466145;179466144;179466143 |
| Novex-2 | 9654 | 29185;29186;29187 | chr2:178601418;178601417;178601416 | chr2:179466145;179466144;179466143 |
| 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/I | rs1344009252  |
0.134 | 0.211 | N | 0.262 | 0.164 | 0.252162846088 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs1344009252 |
0.134 | 0.211 | N | 0.262 | 0.164 | 0.252162846088 | gnomAD-4.0.0 | 6.8458E-06 | None | None | None | None | N | None | 2.9915E-05 | 0 | None | 0 | 2.27687E-04 | None | 0 | 0 | 0 | 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 | 0.1091 | likely_benign | 0.1247 | benign | -0.643 | Destabilizing | 0.64 | D | 0.474 | neutral | N | 0.49681545 | None | None | N |
| T/C | 0.4549 | ambiguous | 0.5046 | ambiguous | -0.451 | Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | N |
| T/D | 0.6686 | likely_pathogenic | 0.6789 | pathogenic | 0.164 | Stabilizing | 0.988 | D | 0.559 | neutral | None | None | None | None | N |
| T/E | 0.4534 | ambiguous | 0.4588 | ambiguous | 0.154 | Stabilizing | 0.988 | D | 0.561 | neutral | None | None | None | None | N |
| T/F | 0.3948 | ambiguous | 0.4656 | ambiguous | -0.75 | Destabilizing | 0.988 | D | 0.627 | neutral | None | None | None | None | N |
| T/G | 0.2725 | likely_benign | 0.314 | benign | -0.877 | Destabilizing | 0.034 | N | 0.315 | neutral | None | None | None | None | N |
| T/H | 0.3499 | ambiguous | 0.3985 | ambiguous | -1.043 | Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| T/I | 0.1912 | likely_benign | 0.2209 | benign | -0.122 | Destabilizing | 0.211 | N | 0.262 | neutral | N | 0.487638607 | None | None | N |
| T/K | 0.3066 | likely_benign | 0.357 | ambiguous | -0.594 | Destabilizing | 0.988 | D | 0.565 | neutral | None | None | None | None | N |
| T/L | 0.1245 | likely_benign | 0.1488 | benign | -0.122 | Destabilizing | 0.851 | D | 0.44 | neutral | None | None | None | None | N |
| T/M | 0.1053 | likely_benign | 0.1278 | benign | -0.062 | Destabilizing | 0.997 | D | 0.595 | neutral | None | None | None | None | N |
| T/N | 0.167 | likely_benign | 0.1731 | benign | -0.497 | Destabilizing | 0.968 | D | 0.521 | neutral | N | 0.520903031 | None | None | N |
| T/P | 0.6647 | likely_pathogenic | 0.7809 | pathogenic | -0.263 | Destabilizing | 0.995 | D | 0.595 | neutral | N | 0.494259206 | None | None | N |
| T/Q | 0.2435 | likely_benign | 0.2648 | benign | -0.622 | Destabilizing | 0.996 | D | 0.591 | neutral | None | None | None | None | N |
| T/R | 0.2913 | likely_benign | 0.3676 | ambiguous | -0.349 | Destabilizing | 0.988 | D | 0.595 | neutral | None | None | None | None | N |
| T/S | 0.1389 | likely_benign | 0.1436 | benign | -0.786 | Destabilizing | 0.896 | D | 0.459 | neutral | N | 0.456123621 | None | None | N |
| T/V | 0.1301 | likely_benign | 0.1439 | benign | -0.263 | Destabilizing | 0.851 | D | 0.447 | neutral | None | None | None | None | N |
| T/W | 0.7607 | likely_pathogenic | 0.8123 | pathogenic | -0.715 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| T/Y | 0.4281 | ambiguous | 0.5037 | ambiguous | -0.473 | Destabilizing | 0.996 | D | 0.635 | 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.