Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8940 | 27043;27044;27045 | chr2:178713316;178713315;178713314 | chr2:179578043;179578042;179578041 |
| N2AB | 8623 | 26092;26093;26094 | chr2:178713316;178713315;178713314 | chr2:179578043;179578042;179578041 |
| N2A | 7696 | 23311;23312;23313 | chr2:178713316;178713315;178713314 | chr2:179578043;179578042;179578041 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.978 | D | 0.525 | 0.507 | 0.537588199982 | gnomAD-4.0.0 | 1.67742E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.90244E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs201005813  |
-0.481 | 0.996 | D | 0.589 | 0.433 | None | gnomAD-2.1.1 | 3.11272E-04 | None | None | None | None | N | None | 3.13888E-03 | 3.45E-05 | None | 0 | 0 | None | 3.9E-05 | None | 8.92E-05 | 2.02E-05 | 0 |
| G/S | rs201005813 |
-0.481 | 0.996 | D | 0.589 | 0.433 | None | gnomAD-3.1.2 | 9.08253E-04 | None | None | None | None | N | None | 3.19257E-03 | 1.96644E-04 | 0 | 0 | 0 | None | 9.47E-05 | 0 | 2.94E-05 | 0 | 0 |
| G/S | rs201005813 |
-0.481 | 0.996 | D | 0.589 | 0.433 | None | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 2.3E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/S | rs201005813 |
-0.481 | 0.996 | D | 0.589 | 0.433 | None | gnomAD-4.0.0 | 1.87174E-04 | None | None | None | None | N | None | 3.35949E-03 | 1.09581E-04 | None | 0 | 0 | None | 4.81603E-05 | 1.67112E-04 | 1.11874E-05 | 3.44693E-05 | 3.25924E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2238 | likely_benign | 0.2475 | benign | -0.294 | Destabilizing | 0.978 | D | 0.525 | neutral | D | 0.604324136 | None | None | N |
| G/C | 0.3597 | ambiguous | 0.4168 | ambiguous | -0.829 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | D | 0.653219797 | None | None | N |
| G/D | 0.2363 | likely_benign | 0.2426 | benign | -0.269 | Destabilizing | 0.241 | N | 0.407 | neutral | D | 0.579261072 | None | None | N |
| G/E | 0.3128 | likely_benign | 0.3472 | ambiguous | -0.432 | Destabilizing | 0.967 | D | 0.647 | neutral | None | None | None | None | N |
| G/F | 0.5718 | likely_pathogenic | 0.6257 | pathogenic | -1.028 | Destabilizing | 0.998 | D | 0.722 | prob.delet. | None | None | None | None | N |
| G/H | 0.3669 | ambiguous | 0.3864 | ambiguous | -0.51 | Destabilizing | 0.491 | N | 0.575 | neutral | None | None | None | None | N |
| G/I | 0.5196 | ambiguous | 0.5686 | pathogenic | -0.444 | Destabilizing | 0.999 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/K | 0.4168 | ambiguous | 0.4635 | ambiguous | -0.608 | Destabilizing | 0.99 | D | 0.639 | neutral | None | None | None | None | N |
| G/L | 0.5383 | ambiguous | 0.5794 | pathogenic | -0.444 | Destabilizing | 0.995 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/M | 0.6133 | likely_pathogenic | 0.6571 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/N | 0.2556 | likely_benign | 0.2643 | benign | -0.291 | Destabilizing | 0.995 | D | 0.605 | neutral | None | None | None | None | N |
| G/P | 0.911 | likely_pathogenic | 0.9286 | pathogenic | -0.362 | Destabilizing | 0.999 | D | 0.668 | neutral | None | None | None | None | N |
| G/Q | 0.3546 | ambiguous | 0.3812 | ambiguous | -0.577 | Destabilizing | 0.923 | D | 0.557 | neutral | None | None | None | None | N |
| G/R | 0.285 | likely_benign | 0.3163 | benign | -0.219 | Destabilizing | 0.997 | D | 0.667 | neutral | D | 0.615437679 | None | None | N |
| G/S | 0.127 | likely_benign | 0.1353 | benign | -0.495 | Destabilizing | 0.996 | D | 0.589 | neutral | D | 0.570458458 | None | None | N |
| G/T | 0.2929 | likely_benign | 0.3207 | benign | -0.585 | Destabilizing | 0.998 | D | 0.656 | neutral | None | None | None | None | N |
| G/V | 0.4176 | ambiguous | 0.4567 | ambiguous | -0.362 | Destabilizing | 0.997 | D | 0.701 | prob.neutral | D | 0.636998631 | None | None | N |
| G/W | 0.5042 | ambiguous | 0.559 | ambiguous | -1.155 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| G/Y | 0.4742 | ambiguous | 0.5105 | ambiguous | -0.801 | Destabilizing | 0.995 | D | 0.724 | prob.delet. | 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.