Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21905 | 65938;65939;65940 | chr2:178583090;178583089;178583088 | chr2:179447817;179447816;179447815 |
| N2AB | 20264 | 61015;61016;61017 | chr2:178583090;178583089;178583088 | chr2:179447817;179447816;179447815 |
| N2A | 19337 | 58234;58235;58236 | chr2:178583090;178583089;178583088 | chr2:179447817;179447816;179447815 |
| N2B | 12840 | 38743;38744;38745 | chr2:178583090;178583089;178583088 | chr2:179447817;179447816;179447815 |
| Novex-1 | 12965 | 39118;39119;39120 | chr2:178583090;178583089;178583088 | chr2:179447817;179447816;179447815 |
| Novex-2 | 13032 | 39319;39320;39321 | chr2:178583090;178583089;178583088 | chr2:179447817;179447816;179447815 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs574615636  |
0.28 | 0.351 | N | 0.364 | 0.109 | 0.158396225186 | gnomAD-2.1.1 | 1.64E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.31848E-04 | None | 0 | 0 | 0 |
| K/N | rs574615636 |
0.28 | 0.351 | N | 0.364 | 0.109 | 0.158396225186 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| K/N | rs574615636 |
0.28 | 0.351 | N | 0.364 | 0.109 | 0.158396225186 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| K/N | rs574615636 |
0.28 | 0.351 | N | 0.364 | 0.109 | 0.158396225186 | gnomAD-4.0.0 | 5.58497E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69695E-06 | 7.70365E-05 | 0 |
| K/Q | None | None | 0.007 | N | 0.22 | 0.15 | 0.149567049428 | gnomAD-4.0.0 | 1.59674E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86705E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.2828 | likely_benign | 0.265 | benign | -0.016 | Destabilizing | 0.129 | N | 0.365 | neutral | None | None | None | None | N |
| K/C | 0.5939 | likely_pathogenic | 0.563 | ambiguous | -0.439 | Destabilizing | 0.983 | D | 0.357 | neutral | None | None | None | None | N |
| K/D | 0.4948 | ambiguous | 0.484 | ambiguous | -0.325 | Destabilizing | 0.418 | N | 0.429 | neutral | None | None | None | None | N |
| K/E | 0.1559 | likely_benign | 0.1507 | benign | -0.302 | Destabilizing | 0.101 | N | 0.365 | neutral | N | 0.482630724 | None | None | N |
| K/F | 0.6047 | likely_pathogenic | 0.5883 | pathogenic | -0.263 | Destabilizing | 0.716 | D | 0.38 | neutral | None | None | None | None | N |
| K/G | 0.408 | ambiguous | 0.3868 | ambiguous | -0.184 | Destabilizing | 0.418 | N | 0.429 | neutral | None | None | None | None | N |
| K/H | 0.2465 | likely_benign | 0.2344 | benign | -0.273 | Destabilizing | 0.836 | D | 0.375 | neutral | None | None | None | None | N |
| K/I | 0.2336 | likely_benign | 0.223 | benign | 0.356 | Stabilizing | 0.213 | N | 0.434 | neutral | N | 0.50241135 | None | None | N |
| K/L | 0.232 | likely_benign | 0.2197 | benign | 0.356 | Stabilizing | 0.002 | N | 0.249 | neutral | None | None | None | None | N |
| K/M | 0.1843 | likely_benign | 0.175 | benign | -0.2 | Destabilizing | 0.716 | D | 0.379 | neutral | None | None | None | None | N |
| K/N | 0.3266 | likely_benign | 0.3128 | benign | -0.036 | Destabilizing | 0.351 | N | 0.364 | neutral | N | 0.499080257 | None | None | N |
| K/P | 0.4431 | ambiguous | 0.4123 | ambiguous | 0.256 | Stabilizing | 0.836 | D | 0.387 | neutral | None | None | None | None | N |
| K/Q | 0.1063 | likely_benign | 0.1031 | benign | -0.109 | Destabilizing | 0.007 | N | 0.22 | neutral | N | 0.483785517 | None | None | N |
| K/R | 0.0935 | likely_benign | 0.0927 | benign | -0.054 | Destabilizing | 0.002 | N | 0.27 | neutral | N | 0.4834388 | None | None | N |
| K/S | 0.3252 | likely_benign | 0.3069 | benign | -0.352 | Destabilizing | 0.129 | N | 0.322 | neutral | None | None | None | None | N |
| K/T | 0.1417 | likely_benign | 0.1321 | benign | -0.198 | Destabilizing | 0.002 | N | 0.227 | neutral | N | 0.471125651 | None | None | N |
| K/V | 0.2201 | likely_benign | 0.2116 | benign | 0.256 | Stabilizing | 0.01 | N | 0.251 | neutral | None | None | None | None | N |
| K/W | 0.7093 | likely_pathogenic | 0.6722 | pathogenic | -0.394 | Destabilizing | 0.983 | D | 0.366 | neutral | None | None | None | None | N |
| K/Y | 0.5049 | ambiguous | 0.486 | ambiguous | -0.042 | Destabilizing | 0.836 | D | 0.379 | 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.