Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10124 | 30595;30596;30597 | chr2:178702517;178702516;178702515 | chr2:179567244;179567243;179567242 |
| N2AB | 9807 | 29644;29645;29646 | chr2:178702517;178702516;178702515 | chr2:179567244;179567243;179567242 |
| N2A | 8880 | 26863;26864;26865 | chr2:178702517;178702516;178702515 | chr2:179567244;179567243;179567242 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs1163704372  |
0.073 | 0.801 | None | 0.37 | 0.249 | 0.165133752707 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| N/K | rs1163704372 |
0.073 | 0.801 | None | 0.37 | 0.249 | 0.165133752707 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs1163704372 |
0.073 | 0.801 | None | 0.37 | 0.249 | 0.165133752707 | gnomAD-4.0.0 | 2.56176E-06 | None | None | None | None | N | None | 1.69182E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34009E-05 | 0 |
| N/T | None | None | 0.051 | None | 0.14 | 0.133 | 0.230578612272 | gnomAD-4.0.0 | 1.59085E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77254E-05 | None | 0 | 0 | 0 | 0 | 0 |
| N/Y | rs2075188829 |
None | 0.989 | None | 0.551 | 0.55 | 0.645059290664 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 0 | 0 |
| N/Y | rs2075188829 |
None | 0.989 | None | 0.551 | 0.55 | 0.645059290664 | gnomAD-4.0.0 | 6.57289E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92308E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.5556 | ambiguous | 0.5868 | pathogenic | -0.888 | Destabilizing | 0.525 | D | 0.388 | neutral | None | None | None | None | N |
| N/C | 0.6113 | likely_pathogenic | 0.6717 | pathogenic | -0.044 | Destabilizing | 0.998 | D | 0.529 | neutral | None | None | None | None | N |
| N/D | 0.4749 | ambiguous | 0.5452 | ambiguous | -1.105 | Destabilizing | 0.801 | D | 0.398 | neutral | None | None | None | None | N |
| N/E | 0.8259 | likely_pathogenic | 0.8736 | pathogenic | -0.981 | Destabilizing | 0.842 | D | 0.364 | neutral | None | None | None | None | N |
| N/F | 0.8547 | likely_pathogenic | 0.8858 | pathogenic | -0.624 | Destabilizing | 0.991 | D | 0.56 | neutral | None | None | None | None | N |
| N/G | 0.7418 | likely_pathogenic | 0.7757 | pathogenic | -1.249 | Destabilizing | 0.525 | D | 0.381 | neutral | None | None | None | None | N |
| N/H | 0.2198 | likely_benign | 0.2478 | benign | -1.004 | Destabilizing | 0.989 | D | 0.441 | neutral | None | None | None | None | N |
| N/I | 0.461 | ambiguous | 0.5503 | ambiguous | 0.041 | Stabilizing | 0.934 | D | 0.536 | neutral | None | None | None | None | N |
| N/K | 0.8055 | likely_pathogenic | 0.8616 | pathogenic | -0.308 | Destabilizing | 0.801 | D | 0.37 | neutral | None | None | None | None | N |
| N/L | 0.5341 | ambiguous | 0.595 | pathogenic | 0.041 | Stabilizing | 0.842 | D | 0.481 | neutral | None | None | None | None | N |
| N/M | 0.7287 | likely_pathogenic | 0.7883 | pathogenic | 0.612 | Stabilizing | 0.998 | D | 0.523 | neutral | None | None | None | None | N |
| N/P | 0.9845 | likely_pathogenic | 0.9879 | pathogenic | -0.239 | Destabilizing | 0.974 | D | 0.515 | neutral | None | None | None | None | N |
| N/Q | 0.689 | likely_pathogenic | 0.7421 | pathogenic | -1.008 | Destabilizing | 0.974 | D | 0.431 | neutral | None | None | None | None | N |
| N/R | 0.7063 | likely_pathogenic | 0.766 | pathogenic | -0.354 | Destabilizing | 0.842 | D | 0.408 | neutral | None | None | None | None | N |
| N/S | 0.1308 | likely_benign | 0.1232 | benign | -1.026 | Destabilizing | 0.007 | N | 0.123 | neutral | None | None | None | None | N |
| N/T | 0.2791 | likely_benign | 0.3002 | benign | -0.71 | Destabilizing | 0.051 | N | 0.14 | neutral | None | None | None | None | N |
| N/V | 0.4876 | ambiguous | 0.5692 | pathogenic | -0.239 | Destabilizing | 0.842 | D | 0.505 | neutral | None | None | None | None | N |
| N/W | 0.952 | likely_pathogenic | 0.9684 | pathogenic | -0.42 | Destabilizing | 0.998 | D | 0.605 | neutral | None | None | None | None | N |
| N/Y | 0.4476 | ambiguous | 0.504 | ambiguous | -0.175 | Destabilizing | 0.989 | D | 0.551 | 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.