Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16757 | 50494;50495;50496 | chr2:178612142;178612141;178612140 | chr2:179476869;179476868;179476867 |
| N2AB | 15116 | 45571;45572;45573 | chr2:178612142;178612141;178612140 | chr2:179476869;179476868;179476867 |
| N2A | 14189 | 42790;42791;42792 | chr2:178612142;178612141;178612140 | chr2:179476869;179476868;179476867 |
| N2B | 7692 | 23299;23300;23301 | chr2:178612142;178612141;178612140 | chr2:179476869;179476868;179476867 |
| Novex-1 | 7817 | 23674;23675;23676 | chr2:178612142;178612141;178612140 | chr2:179476869;179476868;179476867 |
| Novex-2 | 7884 | 23875;23876;23877 | chr2:178612142;178612141;178612140 | chr2:179476869;179476868;179476867 |
| 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/P | None | None | 0.999 | N | 0.805 | 0.359 | 0.488477830397 | gnomAD-4.0.0 | 6.85269E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00246E-07 | 0 | 0 |
| A/T | rs886042536  |
-0.498 | 0.989 | N | 0.527 | 0.162 | 0.437420747294 | gnomAD-2.1.1 | 8.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 0 |
| A/T | rs886042536 |
-0.498 | 0.989 | N | 0.527 | 0.162 | 0.437420747294 | gnomAD-3.1.2 | 4.61E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.36E-05 | 0 | 0 |
| A/T | rs886042536 |
-0.498 | 0.989 | N | 0.527 | 0.162 | 0.437420747294 | gnomAD-4.0.0 | 1.48963E-05 | None | None | None | None | N | None | 2.67559E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.86644E-05 | 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 | 0.5124 | ambiguous | 0.5132 | ambiguous | -0.707 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| A/D | 0.4064 | ambiguous | 0.4523 | ambiguous | -0.552 | Destabilizing | 0.964 | D | 0.672 | neutral | N | 0.437300117 | None | None | N |
| A/E | 0.4351 | ambiguous | 0.4535 | ambiguous | -0.617 | Destabilizing | 0.986 | D | 0.693 | prob.neutral | None | None | None | None | N |
| A/F | 0.4901 | ambiguous | 0.5482 | ambiguous | -0.687 | Destabilizing | 0.998 | D | 0.795 | deleterious | None | None | None | None | N |
| A/G | 0.1658 | likely_benign | 0.1877 | benign | -0.64 | Destabilizing | 0.885 | D | 0.455 | neutral | N | 0.47029568 | None | None | N |
| A/H | 0.5265 | ambiguous | 0.5528 | ambiguous | -0.576 | Destabilizing | 0.998 | D | 0.777 | deleterious | None | None | None | None | N |
| A/I | 0.5969 | likely_pathogenic | 0.6124 | pathogenic | -0.178 | Destabilizing | 0.993 | D | 0.806 | deleterious | None | None | None | None | N |
| A/K | 0.6543 | likely_pathogenic | 0.6441 | pathogenic | -0.847 | Destabilizing | 0.986 | D | 0.689 | prob.neutral | None | None | None | None | N |
| A/L | 0.2934 | likely_benign | 0.3272 | benign | -0.178 | Destabilizing | 0.976 | D | 0.64 | neutral | None | None | None | None | N |
| A/M | 0.4021 | ambiguous | 0.4449 | ambiguous | -0.356 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| A/N | 0.1733 | likely_benign | 0.2053 | benign | -0.639 | Destabilizing | 0.06 | N | 0.331 | neutral | None | None | None | None | N |
| A/P | 0.856 | likely_pathogenic | 0.8056 | pathogenic | -0.236 | Destabilizing | 0.999 | D | 0.805 | deleterious | N | 0.466397519 | None | None | N |
| A/Q | 0.3734 | ambiguous | 0.3956 | ambiguous | -0.799 | Destabilizing | 0.993 | D | 0.806 | deleterious | None | None | None | None | N |
| A/R | 0.5166 | ambiguous | 0.5035 | ambiguous | -0.445 | Destabilizing | 0.986 | D | 0.797 | deleterious | None | None | None | None | N |
| A/S | 0.0852 | likely_benign | 0.0931 | benign | -0.919 | Destabilizing | 0.951 | D | 0.43 | neutral | N | 0.467635656 | None | None | N |
| A/T | 0.179 | likely_benign | 0.1888 | benign | -0.889 | Destabilizing | 0.989 | D | 0.527 | neutral | N | 0.47249806 | None | None | N |
| A/V | 0.3086 | likely_benign | 0.3218 | benign | -0.236 | Destabilizing | 0.969 | D | 0.605 | neutral | N | 0.483210368 | None | None | N |
| A/W | 0.9061 | likely_pathogenic | 0.9215 | pathogenic | -0.961 | Destabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | N |
| A/Y | 0.6209 | likely_pathogenic | 0.6527 | pathogenic | -0.562 | Destabilizing | 0.998 | D | 0.795 | deleterious | 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.