Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35448 | 106567;106568;106569 | chr2:178530273;178530272;178530271 | chr2:179395000;179394999;179394998 |
| N2AB | 33807 | 101644;101645;101646 | chr2:178530273;178530272;178530271 | chr2:179395000;179394999;179394998 |
| N2A | 32880 | 98863;98864;98865 | chr2:178530273;178530272;178530271 | chr2:179395000;179394999;179394998 |
| N2B | 26383 | 79372;79373;79374 | chr2:178530273;178530272;178530271 | chr2:179395000;179394999;179394998 |
| Novex-1 | 26508 | 79747;79748;79749 | chr2:178530273;178530272;178530271 | chr2:179395000;179394999;179394998 |
| Novex-2 | 26575 | 79948;79949;79950 | chr2:178530273;178530272;178530271 | chr2:179395000;179394999;179394998 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs369703073  |
-0.168 | None | N | 0.059 | 0.097 | 0.0482279557977 | gnomAD-2.1.1 | 2.16E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.02881E-04 | None | 0 | None | 0 | 3.13E-05 | 0 |
| R/Q | rs369703073 |
-0.168 | None | N | 0.059 | 0.097 | 0.0482279557977 | 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 |
| R/Q | rs369703073 |
-0.168 | None | N | 0.059 | 0.097 | 0.0482279557977 | gnomAD-4.0.0 | 1.74241E-05 | None | None | None | None | N | None | 2.67587E-05 | 0 | None | 0 | 4.46548E-05 | None | 1.56465E-05 | 0 | 1.78646E-05 | 0 | 3.21533E-05 |
| R/W | rs530453291 |
-0.442 | None | N | 0.252 | 0.147 | None | gnomAD-2.1.1 | 4.31E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.60082E-04 | None | 0 | None | 0 | 3.13E-05 | 1.41323E-04 |
| R/W | rs530453291 |
-0.442 | None | N | 0.252 | 0.147 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 7.69823E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/W | rs530453291 |
-0.442 | None | N | 0.252 | 0.147 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| R/W | rs530453291 |
-0.442 | None | N | 0.252 | 0.147 | None | gnomAD-4.0.0 | 1.36869E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.67929E-04 | None | 0 | 0 | 5.95399E-06 | 3.33126E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1387 | likely_benign | 0.1294 | benign | -0.082 | Destabilizing | 0.003 | N | 0.293 | neutral | None | None | None | None | N |
| R/C | 0.1148 | likely_benign | 0.1228 | benign | -0.244 | Destabilizing | None | N | 0.298 | neutral | None | None | None | None | N |
| R/D | 0.2955 | likely_benign | 0.2886 | benign | 0.015 | Stabilizing | 0.012 | N | 0.442 | neutral | None | None | None | None | N |
| R/E | 0.1324 | likely_benign | 0.1222 | benign | 0.09 | Stabilizing | 0.003 | N | 0.146 | neutral | None | None | None | None | N |
| R/F | 0.1888 | likely_benign | 0.1853 | benign | -0.268 | Destabilizing | 0.015 | N | 0.567 | neutral | None | None | None | None | N |
| R/G | 0.1091 | likely_benign | 0.1089 | benign | -0.294 | Destabilizing | 0.023 | N | 0.396 | neutral | D | 0.530499242 | None | None | N |
| R/H | 0.0764 | likely_benign | 0.0781 | benign | -0.748 | Destabilizing | None | N | 0.091 | neutral | None | None | None | None | N |
| R/I | 0.1097 | likely_benign | 0.112 | benign | 0.444 | Stabilizing | 0.029 | N | 0.565 | neutral | None | None | None | None | N |
| R/K | 0.0763 | likely_benign | 0.0759 | benign | -0.115 | Destabilizing | None | N | 0.057 | neutral | None | None | None | None | N |
| R/L | 0.0854 | likely_benign | 0.0823 | benign | 0.444 | Stabilizing | 0.012 | N | 0.383 | neutral | N | 0.469546783 | None | None | N |
| R/M | 0.1425 | likely_benign | 0.1473 | benign | 0.001 | Stabilizing | 0.177 | N | 0.423 | neutral | None | None | None | None | N |
| R/N | 0.2169 | likely_benign | 0.2108 | benign | 0.107 | Stabilizing | 0.006 | N | 0.192 | neutral | None | None | None | None | N |
| R/P | 0.1553 | likely_benign | 0.1496 | benign | 0.289 | Stabilizing | 0.105 | N | 0.523 | neutral | N | 0.435087493 | None | None | N |
| R/Q | 0.0571 | likely_benign | 0.0546 | benign | 0.008 | Stabilizing | None | N | 0.059 | neutral | N | 0.465658329 | None | None | N |
| R/S | 0.1594 | likely_benign | 0.1555 | benign | -0.315 | Destabilizing | 0.006 | N | 0.361 | neutral | None | None | None | None | N |
| R/T | 0.1135 | likely_benign | 0.1106 | benign | -0.096 | Destabilizing | 0.012 | N | 0.379 | neutral | None | None | None | None | N |
| R/V | 0.1392 | likely_benign | 0.1364 | benign | 0.289 | Stabilizing | 0.006 | N | 0.483 | neutral | None | None | None | None | N |
| R/W | 0.0705 | likely_benign | 0.0726 | benign | -0.276 | Destabilizing | None | N | 0.252 | neutral | N | 0.502520045 | None | None | N |
| R/Y | 0.1377 | likely_benign | 0.1356 | benign | 0.131 | Stabilizing | 0.015 | N | 0.509 | 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.