Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8950 | 27073;27074;27075 | chr2:178713286;178713285;178713284 | chr2:179578013;179578012;179578011 |
| N2AB | 8633 | 26122;26123;26124 | chr2:178713286;178713285;178713284 | chr2:179578013;179578012;179578011 |
| N2A | 7706 | 23341;23342;23343 | chr2:178713286;178713285;178713284 | chr2:179578013;179578012;179578011 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs199557654  |
0.149 | 0.001 | N | 0.203 | 0.217 | None | gnomAD-2.1.1 | 3.25723E-04 | None | None | None | None | I | None | 1.7113E-04 | 1.77494E-04 | None | 0 | 0 | None | 3.12609E-04 | None | 4.08831E-04 | 4.45478E-04 | 5.84112E-04 |
| Y/C | rs199557654 |
0.149 | 0.001 | N | 0.203 | 0.217 | None | gnomAD-3.1.2 | 2.6951E-04 | None | None | None | None | I | None | 1.20685E-04 | 2.62089E-04 | 0 | 0 | 0 | None | 1.88359E-04 | 0 | 4.11644E-04 | 4.14766E-04 | 0 |
| Y/C | rs199557654 |
0.149 | 0.001 | N | 0.203 | 0.217 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| Y/C | rs199557654 |
0.149 | 0.001 | N | 0.203 | 0.217 | None | gnomAD-4.0.0 | 3.49103E-04 | None | None | None | None | I | None | 6.66951E-05 | 1.6956E-04 | None | 0 | 0 | None | 5.49295E-04 | 1.65235E-04 | 3.94492E-04 | 3.45265E-04 | 2.40902E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.208 | likely_benign | 0.1988 | benign | -0.722 | Destabilizing | 0.001 | N | 0.137 | neutral | None | None | None | None | I |
| Y/C | 0.1026 | likely_benign | 0.1164 | benign | 0.061 | Stabilizing | 0.001 | N | 0.203 | neutral | N | 0.474029883 | None | None | I |
| Y/D | 0.1938 | likely_benign | 0.2426 | benign | 1.021 | Stabilizing | 0.116 | N | 0.375 | neutral | N | 0.416251016 | None | None | I |
| Y/E | 0.5121 | ambiguous | 0.5453 | ambiguous | 1.009 | Stabilizing | 0.148 | N | 0.292 | neutral | None | None | None | None | I |
| Y/F | 0.0879 | likely_benign | 0.0854 | benign | -0.313 | Destabilizing | None | N | 0.099 | neutral | N | 0.434087415 | None | None | I |
| Y/G | 0.2465 | likely_benign | 0.2531 | benign | -0.917 | Destabilizing | 0.08 | N | 0.254 | neutral | None | None | None | None | I |
| Y/H | 0.1214 | likely_benign | 0.1423 | benign | 0.192 | Stabilizing | 0.873 | D | 0.371 | neutral | N | 0.46587176 | None | None | I |
| Y/I | 0.3346 | likely_benign | 0.3582 | ambiguous | -0.226 | Destabilizing | None | N | 0.113 | neutral | None | None | None | None | I |
| Y/K | 0.4859 | ambiguous | 0.5152 | ambiguous | 0.191 | Stabilizing | 0.148 | N | 0.292 | neutral | None | None | None | None | I |
| Y/L | 0.3224 | likely_benign | 0.3182 | benign | -0.226 | Destabilizing | 0.016 | N | 0.163 | neutral | None | None | None | None | I |
| Y/M | 0.4695 | ambiguous | 0.4521 | ambiguous | -0.08 | Destabilizing | 0.596 | D | 0.302 | neutral | None | None | None | None | I |
| Y/N | 0.1045 | likely_benign | 0.1208 | benign | 0.01 | Stabilizing | 0.241 | N | 0.383 | neutral | N | 0.43356734 | None | None | I |
| Y/P | 0.9078 | likely_pathogenic | 0.9219 | pathogenic | -0.372 | Destabilizing | 0.46 | N | 0.436 | neutral | None | None | None | None | I |
| Y/Q | 0.3241 | likely_benign | 0.3456 | ambiguous | 0.06 | Stabilizing | 0.46 | N | 0.394 | neutral | None | None | None | None | I |
| Y/R | 0.2961 | likely_benign | 0.3238 | benign | 0.445 | Stabilizing | 0.296 | N | 0.43 | neutral | None | None | None | None | I |
| Y/S | 0.068 | likely_benign | 0.0672 | benign | -0.471 | Destabilizing | 0.001 | N | 0.136 | neutral | N | 0.363512609 | None | None | I |
| Y/T | 0.1894 | likely_benign | 0.1891 | benign | -0.391 | Destabilizing | 0.002 | N | 0.154 | neutral | None | None | None | None | I |
| Y/V | 0.2664 | likely_benign | 0.2765 | benign | -0.372 | Destabilizing | 0.036 | N | 0.172 | neutral | None | None | None | None | I |
| Y/W | 0.3629 | ambiguous | 0.3976 | ambiguous | -0.395 | Destabilizing | 0.901 | D | 0.406 | neutral | None | None | None | None | I |
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.