Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6867 | 20824;20825;20826 | chr2:178725605;178725604;178725603 | chr2:179590332;179590331;179590330 |
| N2AB | 6550 | 19873;19874;19875 | chr2:178725605;178725604;178725603 | chr2:179590332;179590331;179590330 |
| N2A | 5623 | 17092;17093;17094 | chr2:178725605;178725604;178725603 | chr2:179590332;179590331;179590330 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs761337704  |
-0.679 | 0.003 | N | 0.139 | 0.132 | 0.124217242631 | gnomAD-2.1.1 | 8.23E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11832E-04 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs761337704 |
-0.679 | 0.003 | N | 0.139 | 0.132 | 0.124217242631 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92976E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs761337704 |
-0.679 | 0.003 | N | 0.139 | 0.132 | 0.124217242631 | gnomAD-4.0.0 | 3.87215E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.28297E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs368458114 |
None | 0.001 | N | 0.129 | 0.122 | None | gnomAD-4.0.0 | 3.43327E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52296E-05 | None | 0 | 0 | 3.6062E-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 | 0.4371 | ambiguous | 0.4472 | ambiguous | -0.843 | Destabilizing | 0.944 | D | 0.34 | neutral | None | None | None | None | N |
| A/D | 0.2755 | likely_benign | 0.2877 | benign | -1.209 | Destabilizing | 0.627 | D | 0.44 | neutral | N | 0.425349636 | None | None | N |
| A/E | 0.1968 | likely_benign | 0.2055 | benign | -1.295 | Destabilizing | 0.388 | N | 0.389 | neutral | None | None | None | None | N |
| A/F | 0.2271 | likely_benign | 0.2296 | benign | -1.044 | Destabilizing | 0.69 | D | 0.437 | neutral | None | None | None | None | N |
| A/G | 0.1539 | likely_benign | 0.1539 | benign | -1.017 | Destabilizing | 0.193 | N | 0.282 | neutral | N | 0.502020908 | None | None | N |
| A/H | 0.4311 | ambiguous | 0.4401 | ambiguous | -1.116 | Destabilizing | 0.981 | D | 0.407 | neutral | None | None | None | None | N |
| A/I | 0.1255 | likely_benign | 0.1154 | benign | -0.51 | Destabilizing | 0.098 | N | 0.347 | neutral | None | None | None | None | N |
| A/K | 0.3369 | likely_benign | 0.3502 | ambiguous | -1.32 | Destabilizing | 0.388 | N | 0.393 | neutral | None | None | None | None | N |
| A/L | 0.1271 | likely_benign | 0.12 | benign | -0.51 | Destabilizing | 0.002 | N | 0.178 | neutral | None | None | None | None | N |
| A/M | 0.1597 | likely_benign | 0.152 | benign | -0.402 | Destabilizing | 0.69 | D | 0.356 | neutral | None | None | None | None | N |
| A/N | 0.2395 | likely_benign | 0.2253 | benign | -0.946 | Destabilizing | 0.69 | D | 0.433 | neutral | None | None | None | None | N |
| A/P | 0.2255 | likely_benign | 0.2752 | benign | -0.58 | Destabilizing | 0.001 | N | 0.213 | neutral | N | 0.445127476 | None | None | N |
| A/Q | 0.2926 | likely_benign | 0.3054 | benign | -1.19 | Destabilizing | 0.818 | D | 0.371 | neutral | None | None | None | None | N |
| A/R | 0.2855 | likely_benign | 0.3186 | benign | -0.811 | Destabilizing | 0.69 | D | 0.385 | neutral | None | None | None | None | N |
| A/S | 0.0912 | likely_benign | 0.0891 | benign | -1.192 | Destabilizing | 0.003 | N | 0.139 | neutral | N | 0.423482767 | None | None | N |
| A/T | 0.0853 | likely_benign | 0.082 | benign | -1.204 | Destabilizing | 0.193 | N | 0.285 | neutral | N | 0.463713236 | None | None | N |
| A/V | 0.0764 | likely_benign | 0.0715 | benign | -0.58 | Destabilizing | 0.001 | N | 0.129 | neutral | N | 0.347424783 | None | None | N |
| A/W | 0.6011 | likely_pathogenic | 0.6228 | pathogenic | -1.299 | Destabilizing | 0.981 | D | 0.557 | neutral | None | None | None | None | N |
| A/Y | 0.3836 | ambiguous | 0.3785 | ambiguous | -0.963 | Destabilizing | 0.818 | D | 0.429 | 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.