Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25219 | 75880;75881;75882 | chr2:178570477;178570476;178570475 | chr2:179435204;179435203;179435202 |
| N2AB | 23578 | 70957;70958;70959 | chr2:178570477;178570476;178570475 | chr2:179435204;179435203;179435202 |
| N2A | 22651 | 68176;68177;68178 | chr2:178570477;178570476;178570475 | chr2:179435204;179435203;179435202 |
| N2B | 16154 | 48685;48686;48687 | chr2:178570477;178570476;178570475 | chr2:179435204;179435203;179435202 |
| Novex-1 | 16279 | 49060;49061;49062 | chr2:178570477;178570476;178570475 | chr2:179435204;179435203;179435202 |
| Novex-2 | 16346 | 49261;49262;49263 | chr2:178570477;178570476;178570475 | chr2:179435204;179435203;179435202 |
| 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 | None | None | 0.64 | N | 0.613 | 0.163 | 0.254244900254 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| A/P | rs771709515  |
-0.681 | 0.984 | N | 0.605 | 0.3 | 0.352262096564 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.665E-04 |
| A/P | rs771709515 |
-0.681 | 0.984 | N | 0.605 | 0.3 | 0.352262096564 | gnomAD-4.0.0 | 5.47529E-06 | None | None | None | None | N | None | 0 | 6.71351E-05 | None | 0 | 0 | None | 0 | 1.73671E-04 | 8.99603E-07 | 0 | 4.97282E-05 |
| A/T | None | None | 0.811 | N | 0.574 | 0.135 | 0.276898752692 | gnomAD-4.0.0 | 1.36882E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79921E-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 | 0.414 | ambiguous | 0.4901 | ambiguous | -1.245 | Destabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | N |
| A/D | 0.5805 | likely_pathogenic | 0.6024 | pathogenic | -2.422 | Highly Destabilizing | 0.851 | D | 0.619 | neutral | None | None | None | None | N |
| A/E | 0.4121 | ambiguous | 0.4207 | ambiguous | -2.464 | Highly Destabilizing | 0.896 | D | 0.629 | neutral | N | 0.455430188 | None | None | N |
| A/F | 0.514 | ambiguous | 0.5355 | ambiguous | -1.228 | Destabilizing | 0.996 | D | 0.648 | neutral | None | None | None | None | N |
| A/G | 0.1556 | likely_benign | 0.1612 | benign | -1.147 | Destabilizing | 0.64 | D | 0.613 | neutral | N | 0.451429877 | None | None | N |
| A/H | 0.6224 | likely_pathogenic | 0.6435 | pathogenic | -1.118 | Destabilizing | 0.997 | D | 0.636 | neutral | None | None | None | None | N |
| A/I | 0.3627 | ambiguous | 0.3569 | ambiguous | -0.558 | Destabilizing | 0.988 | D | 0.608 | neutral | None | None | None | None | N |
| A/K | 0.4734 | ambiguous | 0.4979 | ambiguous | -1.199 | Destabilizing | 0.919 | D | 0.621 | neutral | None | None | None | None | N |
| A/L | 0.2711 | likely_benign | 0.2739 | benign | -0.558 | Destabilizing | 0.919 | D | 0.629 | neutral | None | None | None | None | N |
| A/M | 0.2675 | likely_benign | 0.2717 | benign | -0.5 | Destabilizing | 0.999 | D | 0.596 | neutral | None | None | None | None | N |
| A/N | 0.389 | ambiguous | 0.3957 | ambiguous | -1.171 | Destabilizing | 0.132 | N | 0.523 | neutral | None | None | None | None | N |
| A/P | 0.536 | ambiguous | 0.5231 | ambiguous | -0.654 | Destabilizing | 0.984 | D | 0.605 | neutral | N | 0.501375908 | None | None | N |
| A/Q | 0.4222 | ambiguous | 0.4394 | ambiguous | -1.462 | Destabilizing | 0.988 | D | 0.621 | neutral | None | None | None | None | N |
| A/R | 0.4407 | ambiguous | 0.4677 | ambiguous | -0.743 | Destabilizing | 0.976 | D | 0.605 | neutral | None | None | None | None | N |
| A/S | 0.0919 | likely_benign | 0.0948 | benign | -1.339 | Destabilizing | 0.046 | N | 0.211 | neutral | N | 0.444269045 | None | None | N |
| A/T | 0.1211 | likely_benign | 0.1129 | benign | -1.32 | Destabilizing | 0.811 | D | 0.574 | neutral | N | 0.519326951 | None | None | N |
| A/V | 0.1747 | likely_benign | 0.1702 | benign | -0.654 | Destabilizing | 0.896 | D | 0.597 | neutral | N | 0.485095401 | None | None | N |
| A/W | 0.8227 | likely_pathogenic | 0.8467 | pathogenic | -1.53 | Destabilizing | 0.999 | D | 0.666 | neutral | None | None | None | None | N |
| A/Y | 0.6223 | likely_pathogenic | 0.6569 | pathogenic | -1.136 | Destabilizing | 0.996 | D | 0.651 | 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.