Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33143 | 99652;99653;99654 | chr2:178537780;178537779;178537778 | chr2:179402507;179402506;179402505 |
| N2AB | 31502 | 94729;94730;94731 | chr2:178537780;178537779;178537778 | chr2:179402507;179402506;179402505 |
| N2A | 30575 | 91948;91949;91950 | chr2:178537780;178537779;178537778 | chr2:179402507;179402506;179402505 |
| N2B | 24078 | 72457;72458;72459 | chr2:178537780;178537779;178537778 | chr2:179402507;179402506;179402505 |
| Novex-1 | 24203 | 72832;72833;72834 | chr2:178537780;178537779;178537778 | chr2:179402507;179402506;179402505 |
| Novex-2 | 24270 | 73033;73034;73035 | chr2:178537780;178537779;178537778 | chr2:179402507;179402506;179402505 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs1380008073  |
None | 0.978 | N | 0.407 | 0.379 | 0.299086750705 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/E | rs1380008073 |
None | 0.978 | N | 0.407 | 0.379 | 0.299086750705 | gnomAD-4.0.0 | 4.33816E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23814E-06 | 0 | 3.20256E-05 |
| Q/K | rs1380008073 |
0.316 | 0.99 | N | 0.476 | 0.446 | 0.314716216878 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| Q/K | rs1380008073 |
0.316 | 0.99 | N | 0.476 | 0.446 | 0.314716216878 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/K | rs1380008073 |
0.316 | 0.99 | N | 0.476 | 0.446 | 0.314716216878 | gnomAD-4.0.0 | 1.23948E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69526E-05 | 0 | 0 |
| Q/R | None | None | 0.985 | N | 0.495 | 0.319 | 0.29132392195 | gnomAD-4.0.0 | 1.59139E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8584E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1731 | likely_benign | 0.1821 | benign | -0.253 | Destabilizing | 0.997 | D | 0.498 | neutral | None | None | None | None | N |
| Q/C | 0.8069 | likely_pathogenic | 0.8367 | pathogenic | 0.215 | Stabilizing | 0.999 | D | 0.626 | neutral | None | None | None | None | N |
| Q/D | 0.4802 | ambiguous | 0.5474 | ambiguous | 0.175 | Stabilizing | 0.99 | D | 0.506 | neutral | None | None | None | None | N |
| Q/E | 0.1043 | likely_benign | 0.1072 | benign | 0.155 | Stabilizing | 0.978 | D | 0.407 | neutral | N | 0.39462495 | None | None | N |
| Q/F | 0.8293 | likely_pathogenic | 0.8601 | pathogenic | -0.434 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| Q/G | 0.3309 | likely_benign | 0.3769 | ambiguous | -0.452 | Destabilizing | 0.997 | D | 0.483 | neutral | None | None | None | None | N |
| Q/H | 0.3313 | likely_benign | 0.4022 | ambiguous | -0.379 | Destabilizing | 0.997 | D | 0.575 | neutral | N | 0.430799181 | None | None | N |
| Q/I | 0.565 | likely_pathogenic | 0.6059 | pathogenic | 0.182 | Stabilizing | 0.998 | D | 0.641 | neutral | None | None | None | None | N |
| Q/K | 0.1882 | likely_benign | 0.1923 | benign | 0.108 | Stabilizing | 0.99 | D | 0.476 | neutral | N | 0.44692064 | None | None | N |
| Q/L | 0.2149 | likely_benign | 0.2454 | benign | 0.182 | Stabilizing | 0.99 | D | 0.483 | neutral | N | 0.443997765 | None | None | N |
| Q/M | 0.4551 | ambiguous | 0.4745 | ambiguous | 0.469 | Stabilizing | 0.998 | D | 0.575 | neutral | None | None | None | None | N |
| Q/N | 0.3064 | likely_benign | 0.3752 | ambiguous | -0.247 | Destabilizing | 0.997 | D | 0.52 | neutral | None | None | None | None | N |
| Q/P | 0.0822 | likely_benign | 0.0842 | benign | 0.066 | Stabilizing | 0.996 | D | 0.594 | neutral | N | 0.392144792 | None | None | N |
| Q/R | 0.2185 | likely_benign | 0.2268 | benign | 0.211 | Stabilizing | 0.985 | D | 0.495 | neutral | N | 0.456772274 | None | None | N |
| Q/S | 0.1974 | likely_benign | 0.2209 | benign | -0.262 | Destabilizing | 0.997 | D | 0.479 | neutral | None | None | None | None | N |
| Q/T | 0.2202 | likely_benign | 0.247 | benign | -0.118 | Destabilizing | 0.979 | D | 0.541 | neutral | None | None | None | None | N |
| Q/V | 0.3739 | ambiguous | 0.3994 | ambiguous | 0.066 | Stabilizing | 0.993 | D | 0.513 | neutral | None | None | None | None | N |
| Q/W | 0.8442 | likely_pathogenic | 0.8649 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.607 | neutral | None | None | None | None | N |
| Q/Y | 0.686 | likely_pathogenic | 0.7333 | pathogenic | -0.148 | Destabilizing | 0.999 | D | 0.591 | 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.