Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3242 | 9949;9950;9951 | chr2:178764791;178764790;178764789 | chr2:179629518;179629517;179629516 |
| N2AB | 3242 | 9949;9950;9951 | chr2:178764791;178764790;178764789 | chr2:179629518;179629517;179629516 |
| N2A | 3242 | 9949;9950;9951 | chr2:178764791;178764790;178764789 | chr2:179629518;179629517;179629516 |
| N2B | 3196 | 9811;9812;9813 | chr2:178764791;178764790;178764789 | chr2:179629518;179629517;179629516 |
| Novex-1 | 3196 | 9811;9812;9813 | chr2:178764791;178764790;178764789 | chr2:179629518;179629517;179629516 |
| Novex-2 | 3196 | 9811;9812;9813 | chr2:178764791;178764790;178764789 | chr2:179629518;179629517;179629516 |
| Novex-3 | 3242 | 9949;9950;9951 | chr2:178764791;178764790;178764789 | chr2:179629518;179629517;179629516 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/Q | rs2090060609  |
None | 0.99 | D | 0.634 | 0.57 | 0.854039639294 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/Q | rs2090060609 |
None | 0.99 | D | 0.634 | 0.57 | 0.854039639294 | gnomAD-4.0.0 | 6.56927E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.2936 | likely_benign | 0.3959 | ambiguous | -1.101 | Destabilizing | 0.754 | D | 0.51 | neutral | None | None | None | None | N |
| L/C | 0.5604 | ambiguous | 0.6736 | pathogenic | -0.806 | Destabilizing | 0.998 | D | 0.569 | neutral | None | None | None | None | N |
| L/D | 0.6992 | likely_pathogenic | 0.8359 | pathogenic | -0.474 | Destabilizing | 0.993 | D | 0.675 | neutral | None | None | None | None | N |
| L/E | 0.3167 | likely_benign | 0.4165 | ambiguous | -0.511 | Destabilizing | 0.978 | D | 0.658 | neutral | None | None | None | None | N |
| L/F | 0.1414 | likely_benign | 0.216 | benign | -0.728 | Destabilizing | 0.956 | D | 0.556 | neutral | None | None | None | None | N |
| L/G | 0.618 | likely_pathogenic | 0.7475 | pathogenic | -1.352 | Destabilizing | 0.978 | D | 0.666 | neutral | None | None | None | None | N |
| L/H | 0.2354 | likely_benign | 0.3399 | benign | -0.436 | Destabilizing | 0.998 | D | 0.678 | prob.neutral | None | None | None | None | N |
| L/I | 0.0655 | likely_benign | 0.0746 | benign | -0.522 | Destabilizing | 0.019 | N | 0.162 | neutral | None | None | None | None | N |
| L/K | 0.2646 | likely_benign | 0.3322 | benign | -0.745 | Destabilizing | 0.978 | D | 0.647 | neutral | None | None | None | None | N |
| L/M | 0.115 | likely_benign | 0.1298 | benign | -0.514 | Destabilizing | 0.942 | D | 0.559 | neutral | D | 0.523095513 | None | None | N |
| L/N | 0.403 | ambiguous | 0.5637 | ambiguous | -0.615 | Destabilizing | 0.993 | D | 0.671 | neutral | None | None | None | None | N |
| L/P | 0.7344 | likely_pathogenic | 0.8553 | pathogenic | -0.682 | Destabilizing | 0.99 | D | 0.67 | neutral | D | 0.601226017 | None | None | N |
| L/Q | 0.1433 | likely_benign | 0.1731 | benign | -0.81 | Destabilizing | 0.99 | D | 0.634 | neutral | D | 0.523643445 | None | None | N |
| L/R | 0.1927 | likely_benign | 0.2545 | benign | -0.119 | Destabilizing | 0.971 | D | 0.64 | neutral | D | 0.524068921 | None | None | N |
| L/S | 0.2857 | likely_benign | 0.4348 | ambiguous | -1.165 | Destabilizing | 0.978 | D | 0.655 | neutral | None | None | None | None | N |
| L/T | 0.2092 | likely_benign | 0.2757 | benign | -1.092 | Destabilizing | 0.956 | D | 0.575 | neutral | None | None | None | None | N |
| L/V | 0.0853 | likely_benign | 0.092 | benign | -0.682 | Destabilizing | 0.014 | N | 0.183 | neutral | N | 0.496492956 | None | None | N |
| L/W | 0.2873 | likely_benign | 0.4152 | ambiguous | -0.75 | Destabilizing | 0.998 | D | 0.685 | prob.neutral | None | None | None | None | N |
| L/Y | 0.3812 | ambiguous | 0.5098 | ambiguous | -0.533 | Destabilizing | 0.978 | D | 0.585 | 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.