Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35658 | 107197;107198;107199 | chr2:178528779;178528778;178528777 | chr2:179393506;179393505;179393504 |
| N2AB | 34017 | 102274;102275;102276 | chr2:178528779;178528778;178528777 | chr2:179393506;179393505;179393504 |
| N2A | 33090 | 99493;99494;99495 | chr2:178528779;178528778;178528777 | chr2:179393506;179393505;179393504 |
| N2B | 26593 | 80002;80003;80004 | chr2:178528779;178528778;178528777 | chr2:179393506;179393505;179393504 |
| Novex-1 | 26718 | 80377;80378;80379 | chr2:178528779;178528778;178528777 | chr2:179393506;179393505;179393504 |
| Novex-2 | 26785 | 80578;80579;80580 | chr2:178528779;178528778;178528777 | chr2:179393506;179393505;179393504 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs772898540  |
-0.032 | 0.001 | N | 0.135 | 0.059 | 0.0954503805726 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| S/N | rs772898540 |
-0.032 | 0.001 | N | 0.135 | 0.059 | 0.0954503805726 | gnomAD-4.0.0 | 2.05438E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70073E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1178 | likely_benign | 0.112 | benign | -0.515 | Destabilizing | 0.004 | N | 0.126 | neutral | None | None | None | None | N |
| S/C | 0.2514 | likely_benign | 0.235 | benign | -0.258 | Destabilizing | 0.975 | D | 0.453 | neutral | N | 0.475763467 | None | None | N |
| S/D | 0.3385 | likely_benign | 0.3351 | benign | -0.335 | Destabilizing | 0.241 | N | 0.29 | neutral | None | None | None | None | N |
| S/E | 0.4897 | ambiguous | 0.4681 | ambiguous | -0.431 | Destabilizing | 0.388 | N | 0.295 | neutral | None | None | None | None | N |
| S/F | 0.3234 | likely_benign | 0.3196 | benign | -1.205 | Destabilizing | 0.932 | D | 0.545 | neutral | None | None | None | None | N |
| S/G | 0.1042 | likely_benign | 0.1043 | benign | -0.608 | Destabilizing | 0.09 | N | 0.331 | neutral | N | 0.473163092 | None | None | N |
| S/H | 0.4007 | ambiguous | 0.3931 | ambiguous | -1.243 | Destabilizing | 0.69 | D | 0.451 | neutral | None | None | None | None | N |
| S/I | 0.2099 | likely_benign | 0.2001 | benign | -0.392 | Destabilizing | 0.773 | D | 0.527 | neutral | N | 0.47541675 | None | None | N |
| S/K | 0.5696 | likely_pathogenic | 0.5532 | ambiguous | -0.478 | Destabilizing | 0.241 | N | 0.32 | neutral | None | None | None | None | N |
| S/L | 0.1583 | likely_benign | 0.1498 | benign | -0.392 | Destabilizing | 0.388 | N | 0.469 | neutral | None | None | None | None | N |
| S/M | 0.2859 | likely_benign | 0.2722 | benign | 0.143 | Stabilizing | 0.981 | D | 0.451 | neutral | None | None | None | None | N |
| S/N | 0.1104 | likely_benign | 0.1106 | benign | -0.246 | Destabilizing | 0.001 | N | 0.135 | neutral | N | 0.454924048 | None | None | N |
| S/P | 0.3212 | likely_benign | 0.2844 | benign | -0.408 | Destabilizing | 0.002 | N | 0.205 | neutral | None | None | None | None | N |
| S/Q | 0.4979 | ambiguous | 0.4885 | ambiguous | -0.619 | Destabilizing | 0.69 | D | 0.416 | neutral | None | None | None | None | N |
| S/R | 0.4805 | ambiguous | 0.4797 | ambiguous | -0.222 | Destabilizing | 0.81 | D | 0.42 | neutral | N | 0.474723317 | None | None | N |
| S/T | 0.1001 | likely_benign | 0.0979 | benign | -0.331 | Destabilizing | 0.165 | N | 0.344 | neutral | N | 0.474723317 | None | None | N |
| S/V | 0.2727 | likely_benign | 0.2524 | benign | -0.408 | Destabilizing | 0.388 | N | 0.508 | neutral | None | None | None | None | N |
| S/W | 0.4548 | ambiguous | 0.4643 | ambiguous | -1.175 | Destabilizing | 0.981 | D | 0.61 | neutral | None | None | None | None | N |
| S/Y | 0.2766 | likely_benign | 0.2783 | benign | -0.897 | Destabilizing | 0.932 | D | 0.543 | 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.