Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3700 | 11323;11324;11325 | chr2:178756378;178756377;178756376 | chr2:179621105;179621104;179621103 |
| 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 | 3529 | 10810;10811;10812 | chr2:178756378;178756377;178756376 | chr2:179621105;179621104;179621103 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | None | None | None | None | None | 0.088 | None | gnomAD-4.0.0 | 1.59117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85796E-06 | 0 | 0 |
| I/T | rs931429979  |
-2.222 | None | None | None | 0.178 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs931429979 |
-2.222 | None | None | None | 0.178 | None | gnomAD-4.0.0 | 2.0526E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5208E-05 | None | 0 | 0 | 1.79889E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3933 | ambiguous | None | None | -2.196 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.8677 | likely_pathogenic | None | None | -1.366 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9024 | likely_pathogenic | None | None | -2.019 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.7685 | likely_pathogenic | None | None | -1.884 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.2352 | likely_benign | None | None | -1.358 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/G | 0.7959 | likely_pathogenic | None | None | -2.661 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.8105 | likely_pathogenic | None | None | -1.923 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.6623 | likely_pathogenic | None | None | -1.652 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.1388 | likely_benign | None | None | -0.907 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/M | 0.0995 | likely_benign | None | None | -0.707 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/N | 0.5745 | likely_pathogenic | None | None | -1.713 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/P | 0.8436 | likely_pathogenic | None | None | -1.311 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.7114 | likely_pathogenic | None | None | -1.719 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.5321 | ambiguous | None | None | -1.191 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.5149 | ambiguous | None | None | -2.396 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/T | 0.2365 | likely_benign | None | None | -2.122 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/V | 0.1117 | likely_benign | None | None | -1.311 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/W | 0.8234 | likely_pathogenic | None | None | -1.603 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.6848 | likely_pathogenic | None | None | -1.339 | 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.