Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20809 | 62650;62651;62652 | chr2:178589300;178589299;178589298 | chr2:179454027;179454026;179454025 |
| N2AB | 19168 | 57727;57728;57729 | chr2:178589300;178589299;178589298 | chr2:179454027;179454026;179454025 |
| N2A | 18241 | 54946;54947;54948 | chr2:178589300;178589299;178589298 | chr2:179454027;179454026;179454025 |
| N2B | 11744 | 35455;35456;35457 | chr2:178589300;178589299;178589298 | chr2:179454027;179454026;179454025 |
| Novex-1 | 11869 | 35830;35831;35832 | chr2:178589300;178589299;178589298 | chr2:179454027;179454026;179454025 |
| Novex-2 | 11936 | 36031;36032;36033 | chr2:178589300;178589299;178589298 | chr2:179454027;179454026;179454025 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1576068414  |
None | 0.669 | N | 0.303 | 0.182 | 0.216624796971 | gnomAD-4.0.0 | 1.59231E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02572E-05 |
| A/S | rs532844402 |
-0.115 | 0.121 | N | 0.231 | 0.056 | 0.181679512989 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.66E-05 | 0 | 0 |
| A/T | rs532844402 |
-0.228 | 0.233 | N | 0.272 | 0.05 | 0.202949470691 | gnomAD-2.1.1 | 8.22E-05 | None | None | None | None | N | None | 1.24018E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56306E-04 | 0 |
| A/T | rs532844402 |
-0.228 | 0.233 | N | 0.272 | 0.05 | 0.202949470691 | gnomAD-3.1.2 | 1.24964E-04 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.35391E-04 | 0 | 0 |
| A/T | rs532844402 |
-0.228 | 0.233 | N | 0.272 | 0.05 | 0.202949470691 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/T | rs532844402 |
-0.228 | 0.233 | N | 0.272 | 0.05 | 0.202949470691 | gnomAD-4.0.0 | 1.79776E-04 | None | None | None | None | N | None | 6.66613E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.36565E-04 | 0 | 9.60738E-05 |
| A/V | None | None | 0.022 | N | 0.121 | 0.136 | 0.229924730088 | gnomAD-4.0.0 | 1.59231E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86015E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3859 | ambiguous | 0.4415 | ambiguous | -0.61 | Destabilizing | 0.998 | D | 0.39 | neutral | None | None | None | None | N |
| A/D | 0.2818 | likely_benign | 0.2603 | benign | -0.424 | Destabilizing | 0.934 | D | 0.432 | neutral | N | 0.44185231 | None | None | N |
| A/E | 0.2899 | likely_benign | 0.2805 | benign | -0.584 | Destabilizing | 0.842 | D | 0.366 | neutral | None | None | None | None | N |
| A/F | 0.3174 | likely_benign | 0.3274 | benign | -0.892 | Destabilizing | 0.974 | D | 0.471 | neutral | None | None | None | None | N |
| A/G | 0.1164 | likely_benign | 0.1195 | benign | -0.069 | Destabilizing | 0.669 | D | 0.303 | neutral | N | 0.438611643 | None | None | N |
| A/H | 0.4481 | ambiguous | 0.4431 | ambiguous | -0.223 | Destabilizing | 0.998 | D | 0.475 | neutral | None | None | None | None | N |
| A/I | 0.1983 | likely_benign | 0.2093 | benign | -0.298 | Destabilizing | 0.728 | D | 0.313 | neutral | None | None | None | None | N |
| A/K | 0.4495 | ambiguous | 0.4302 | ambiguous | -0.308 | Destabilizing | 0.842 | D | 0.366 | neutral | None | None | None | None | N |
| A/L | 0.1725 | likely_benign | 0.1782 | benign | -0.298 | Destabilizing | 0.525 | D | 0.339 | neutral | None | None | None | None | N |
| A/M | 0.2041 | likely_benign | 0.2162 | benign | -0.328 | Destabilizing | 0.974 | D | 0.419 | neutral | None | None | None | None | N |
| A/N | 0.1903 | likely_benign | 0.197 | benign | 0.012 | Stabilizing | 0.949 | D | 0.449 | neutral | None | None | None | None | N |
| A/P | 0.1882 | likely_benign | 0.1648 | benign | -0.2 | Destabilizing | 0.986 | D | 0.421 | neutral | N | 0.408993317 | None | None | N |
| A/Q | 0.3354 | likely_benign | 0.3285 | benign | -0.269 | Destabilizing | 0.974 | D | 0.427 | neutral | None | None | None | None | N |
| A/R | 0.4438 | ambiguous | 0.4085 | ambiguous | 0.064 | Stabilizing | 0.949 | D | 0.412 | neutral | None | None | None | None | N |
| A/S | 0.0849 | likely_benign | 0.0878 | benign | -0.133 | Destabilizing | 0.121 | N | 0.231 | neutral | N | 0.444777972 | None | None | N |
| A/T | 0.0796 | likely_benign | 0.0802 | benign | -0.227 | Destabilizing | 0.233 | N | 0.272 | neutral | N | 0.438910792 | None | None | N |
| A/V | 0.1131 | likely_benign | 0.1158 | benign | -0.2 | Destabilizing | 0.022 | N | 0.121 | neutral | N | 0.432235536 | None | None | N |
| A/W | 0.7101 | likely_pathogenic | 0.706 | pathogenic | -1.015 | Destabilizing | 0.998 | D | 0.611 | neutral | None | None | None | None | N |
| A/Y | 0.4275 | ambiguous | 0.4361 | ambiguous | -0.662 | Destabilizing | 0.991 | D | 0.464 | 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.