Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3731 | 11416;11417;11418 | chr2:178756285;178756284;178756283 | chr2:179621012;179621011;179621010 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3560 | 10903;10904;10905 | chr2:178756285;178756284;178756283 | chr2:179621012;179621011;179621010 |
| 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/G | None | None | None | None | None | 0.099 | None | gnomAD-4.0.0 | 1.59122E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | None | None | None | None | None | 0.186 | None | gnomAD-4.0.0 | 1.59126E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| S/R | None | None | None | None | None | 0.044 | None | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.773E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1211 | likely_benign | None | None | -1.029 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/C | 0.1402 | likely_benign | None | None | -0.562 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/D | 0.5095 | ambiguous | None | None | -1.089 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.534 | ambiguous | None | None | -0.902 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.2689 | likely_benign | None | None | -0.994 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/G | 0.1552 | likely_benign | None | None | -1.39 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/H | 0.295 | likely_benign | None | None | -1.587 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.2437 | likely_benign | None | None | -0.106 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/K | 0.6591 | likely_pathogenic | None | None | 0.138 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.1695 | likely_benign | None | None | -0.106 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.3384 | likely_benign | None | None | -0.174 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.2005 | likely_benign | None | None | -0.463 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/P | 0.9575 | likely_pathogenic | None | None | -0.383 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Q | 0.4892 | ambiguous | None | None | -0.306 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.4453 | ambiguous | None | None | -0.22 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/T | 0.0948 | likely_benign | None | None | -0.257 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/V | 0.2618 | likely_benign | None | None | -0.383 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.4048 | ambiguous | None | None | -1.123 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.1955 | likely_benign | None | None | -0.704 | Destabilizing | None | None | None | None | 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.