Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20225 | 60898;60899;60900 | chr2:178591052;178591051;178591050 | chr2:179455779;179455778;179455777 |
| N2AB | 18584 | 55975;55976;55977 | chr2:178591052;178591051;178591050 | chr2:179455779;179455778;179455777 |
| N2A | 17657 | 53194;53195;53196 | chr2:178591052;178591051;178591050 | chr2:179455779;179455778;179455777 |
| N2B | 11160 | 33703;33704;33705 | chr2:178591052;178591051;178591050 | chr2:179455779;179455778;179455777 |
| Novex-1 | 11285 | 34078;34079;34080 | chr2:178591052;178591051;178591050 | chr2:179455779;179455778;179455777 |
| Novex-2 | 11352 | 34279;34280;34281 | chr2:178591052;178591051;178591050 | chr2:179455779;179455778;179455777 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1428725715  |
0.299 | 0.967 | N | 0.558 | 0.275 | 0.361160317528 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| G/E | rs1428725715 |
0.299 | 0.967 | N | 0.558 | 0.275 | 0.361160317528 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs1428725715 |
0.299 | 0.967 | N | 0.558 | 0.275 | 0.361160317528 | gnomAD-4.0.0 | 2.56349E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.7887E-06 | 0 | 0 |
| G/R | rs771598189 |
0.254 | 0.997 | N | 0.613 | 0.369 | 0.484545746072 | gnomAD-2.1.1 | 2.51E-05 | None | None | None | None | I | None | 8.27E-05 | 0 | None | 0 | 2.57255E-04 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs771598189 |
0.254 | 0.997 | N | 0.613 | 0.369 | 0.484545746072 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 1.94401E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs771598189 |
0.254 | 0.997 | N | 0.613 | 0.369 | 0.484545746072 | gnomAD-4.0.0 | 1.36371E-05 | None | None | None | None | I | None | 2.67151E-05 | 0 | None | 0 | 2.00947E-04 | None | 0 | 0 | 8.47782E-06 | 1.0981E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1436 | likely_benign | 0.1539 | benign | -0.094 | Destabilizing | 0.025 | N | 0.286 | neutral | N | 0.434593556 | None | None | I |
| G/C | 0.2155 | likely_benign | 0.2259 | benign | -0.789 | Destabilizing | 0.997 | D | 0.677 | prob.neutral | None | None | None | None | I |
| G/D | 0.4106 | ambiguous | 0.5548 | ambiguous | -0.152 | Destabilizing | 0.975 | D | 0.549 | neutral | None | None | None | None | I |
| G/E | 0.3628 | ambiguous | 0.5042 | ambiguous | -0.309 | Destabilizing | 0.967 | D | 0.558 | neutral | N | 0.475728102 | None | None | I |
| G/F | 0.6193 | likely_pathogenic | 0.6768 | pathogenic | -0.894 | Destabilizing | 0.987 | D | 0.683 | prob.neutral | None | None | None | None | I |
| G/H | 0.4544 | ambiguous | 0.5418 | ambiguous | -0.317 | Destabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | I |
| G/I | 0.3499 | ambiguous | 0.3962 | ambiguous | -0.344 | Destabilizing | 0.95 | D | 0.683 | prob.neutral | None | None | None | None | I |
| G/K | 0.4914 | ambiguous | 0.6278 | pathogenic | -0.318 | Destabilizing | 0.975 | D | 0.579 | neutral | None | None | None | None | I |
| G/L | 0.4743 | ambiguous | 0.5201 | ambiguous | -0.344 | Destabilizing | 0.95 | D | 0.608 | neutral | None | None | None | None | I |
| G/M | 0.5429 | ambiguous | 0.5701 | pathogenic | -0.377 | Destabilizing | 0.997 | D | 0.663 | neutral | None | None | None | None | I |
| G/N | 0.3737 | ambiguous | 0.4455 | ambiguous | -0.103 | Destabilizing | 0.975 | D | 0.553 | neutral | None | None | None | None | I |
| G/P | 0.8209 | likely_pathogenic | 0.8475 | pathogenic | -0.234 | Destabilizing | 0.987 | D | 0.613 | neutral | None | None | None | None | I |
| G/Q | 0.387 | ambiguous | 0.4686 | ambiguous | -0.35 | Destabilizing | 0.987 | D | 0.628 | neutral | None | None | None | None | I |
| G/R | 0.329 | likely_benign | 0.454 | ambiguous | -0.027 | Destabilizing | 0.997 | D | 0.613 | neutral | N | 0.463126951 | None | None | I |
| G/S | 0.1164 | likely_benign | 0.1297 | benign | -0.256 | Destabilizing | 0.299 | N | 0.275 | neutral | None | None | None | None | I |
| G/T | 0.1862 | likely_benign | 0.2109 | benign | -0.343 | Destabilizing | 0.845 | D | 0.541 | neutral | None | None | None | None | I |
| G/V | 0.2331 | likely_benign | 0.2688 | benign | -0.234 | Destabilizing | 0.204 | N | 0.433 | neutral | N | 0.461164081 | None | None | I |
| G/W | 0.4842 | ambiguous | 0.5637 | ambiguous | -1.019 | Destabilizing | 0.999 | D | 0.642 | neutral | None | None | None | None | I |
| G/Y | 0.514 | ambiguous | 0.5917 | pathogenic | -0.661 | Destabilizing | 0.996 | D | 0.678 | prob.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.