Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9209 | 27850;27851;27852 | chr2:178712205;178712204;178712203 | chr2:179576932;179576931;179576930 |
| N2AB | 8892 | 26899;26900;26901 | chr2:178712205;178712204;178712203 | chr2:179576932;179576931;179576930 |
| N2A | 7965 | 24118;24119;24120 | chr2:178712205;178712204;178712203 | chr2:179576932;179576931;179576930 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs148355969  |
0.366 | 0.001 | N | 0.087 | 0.138 | None | gnomAD-2.1.1 | 8.23E-05 | None | None | None | None | N | None | 7.85838E-04 | 1.1334E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/E | rs148355969 |
0.366 | 0.001 | N | 0.087 | 0.138 | None | gnomAD-3.1.2 | 2.10333E-04 | None | None | None | None | N | None | 7.47997E-04 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/E | rs148355969 |
0.366 | 0.001 | N | 0.087 | 0.138 | None | 1000 genomes | 7.98722E-04 | None | None | None | None | N | None | 3E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| K/E | rs148355969 |
0.366 | 0.001 | N | 0.087 | 0.138 | None | gnomAD-4.0.0 | 4.89684E-05 | None | None | None | None | N | None | 9.46414E-04 | 1.00057E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.20184E-05 |
| K/R | rs775941896 |
-0.186 | None | N | 0.093 | 0.063 | 0.162503812791 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| K/R | rs775941896 |
-0.186 | None | N | 0.093 | 0.063 | 0.162503812791 | gnomAD-4.0.0 | 1.59251E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8609E-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 | 0.2586 | likely_benign | 0.2553 | benign | -0.286 | Destabilizing | 0.001 | N | 0.147 | neutral | None | None | None | None | N |
| K/C | 0.617 | likely_pathogenic | 0.6426 | pathogenic | -0.332 | Destabilizing | 0.935 | D | 0.375 | neutral | None | None | None | None | N |
| K/D | 0.4581 | ambiguous | 0.4287 | ambiguous | -0.053 | Destabilizing | 0.081 | N | 0.307 | neutral | None | None | None | None | N |
| K/E | 0.1128 | likely_benign | 0.1055 | benign | 0.048 | Stabilizing | 0.001 | N | 0.087 | neutral | N | 0.444573768 | None | None | N |
| K/F | 0.6853 | likely_pathogenic | 0.6727 | pathogenic | 0.123 | Stabilizing | 0.555 | D | 0.387 | neutral | None | None | None | None | N |
| K/G | 0.3589 | ambiguous | 0.3403 | ambiguous | -0.645 | Destabilizing | 0.081 | N | 0.345 | neutral | None | None | None | None | N |
| K/H | 0.2334 | likely_benign | 0.2255 | benign | -0.947 | Destabilizing | 0.555 | D | 0.368 | neutral | None | None | None | None | N |
| K/I | 0.3187 | likely_benign | 0.3007 | benign | 0.635 | Stabilizing | 0.38 | N | 0.403 | neutral | None | None | None | None | N |
| K/L | 0.2868 | likely_benign | 0.2841 | benign | 0.635 | Stabilizing | 0.081 | N | 0.337 | neutral | None | None | None | None | N |
| K/M | 0.1914 | likely_benign | 0.1916 | benign | 0.333 | Stabilizing | 0.741 | D | 0.369 | neutral | N | 0.501977067 | None | None | N |
| K/N | 0.268 | likely_benign | 0.2507 | benign | -0.286 | Destabilizing | 0.117 | N | 0.209 | neutral | N | 0.470490933 | None | None | N |
| K/P | 0.8137 | likely_pathogenic | 0.8032 | pathogenic | 0.359 | Stabilizing | 0.555 | D | 0.381 | neutral | None | None | None | None | N |
| K/Q | 0.0913 | likely_benign | 0.087 | benign | -0.314 | Destabilizing | 0.117 | N | 0.223 | neutral | N | 0.476085967 | None | None | N |
| K/R | 0.0799 | likely_benign | 0.0792 | benign | -0.585 | Destabilizing | None | N | 0.093 | neutral | N | 0.485881673 | None | None | N |
| K/S | 0.2511 | likely_benign | 0.242 | benign | -0.828 | Destabilizing | 0.035 | N | 0.217 | neutral | None | None | None | None | N |
| K/T | 0.1047 | likely_benign | 0.1015 | benign | -0.535 | Destabilizing | 0.002 | N | 0.145 | neutral | N | 0.451153024 | None | None | N |
| K/V | 0.2929 | likely_benign | 0.277 | benign | 0.359 | Stabilizing | 0.081 | N | 0.357 | neutral | None | None | None | None | N |
| K/W | 0.6977 | likely_pathogenic | 0.6922 | pathogenic | 0.184 | Stabilizing | 0.935 | D | 0.406 | neutral | None | None | None | None | N |
| K/Y | 0.5212 | ambiguous | 0.5052 | ambiguous | 0.445 | Stabilizing | 0.555 | D | 0.375 | 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.