Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31942 | 96049;96050;96051 | chr2:178544405;178544404;178544403 | chr2:179409132;179409131;179409130 |
| N2AB | 30301 | 91126;91127;91128 | chr2:178544405;178544404;178544403 | chr2:179409132;179409131;179409130 |
| N2A | 29374 | 88345;88346;88347 | chr2:178544405;178544404;178544403 | chr2:179409132;179409131;179409130 |
| N2B | 22877 | 68854;68855;68856 | chr2:178544405;178544404;178544403 | chr2:179409132;179409131;179409130 |
| Novex-1 | 23002 | 69229;69230;69231 | chr2:178544405;178544404;178544403 | chr2:179409132;179409131;179409130 |
| Novex-2 | 23069 | 69430;69431;69432 | chr2:178544405;178544404;178544403 | chr2:179409132;179409131;179409130 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs757627281  |
-0.068 | None | N | 0.071 | 0.089 | 0.220303561663 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.63399E-04 | None | 0 | 0 | 0 |
| V/I | rs757627281 |
-0.068 | None | N | 0.071 | 0.089 | 0.220303561663 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs757627281 |
-0.068 | None | N | 0.071 | 0.089 | 0.220303561663 | gnomAD-4.0.0 | 1.54935E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.22846E-05 | None | 0 | 1.6442E-04 | 1.69531E-06 | 2.08599E-04 | 3.20225E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0813 | likely_benign | 0.076 | benign | -0.544 | Destabilizing | 0.005 | N | 0.179 | neutral | N | 0.459259927 | None | None | I |
| V/C | 0.4281 | ambiguous | 0.4175 | ambiguous | -0.624 | Destabilizing | 0.356 | N | 0.35 | neutral | None | None | None | None | I |
| V/D | 0.2559 | likely_benign | 0.2276 | benign | -0.315 | Destabilizing | 0.072 | N | 0.37 | neutral | None | None | None | None | I |
| V/E | 0.1838 | likely_benign | 0.1663 | benign | -0.413 | Destabilizing | 0.012 | N | 0.311 | neutral | N | 0.43547899 | None | None | I |
| V/F | 0.1084 | likely_benign | 0.1024 | benign | -0.635 | Destabilizing | 0.072 | N | 0.461 | neutral | None | None | None | None | I |
| V/G | 0.1599 | likely_benign | 0.1488 | benign | -0.709 | Destabilizing | 0.024 | N | 0.339 | neutral | N | 0.46639933 | None | None | I |
| V/H | 0.268 | likely_benign | 0.2502 | benign | -0.229 | Destabilizing | 0.356 | N | 0.325 | neutral | None | None | None | None | I |
| V/I | 0.0541 | likely_benign | 0.0533 | benign | -0.252 | Destabilizing | None | N | 0.071 | neutral | N | 0.362810815 | None | None | I |
| V/K | 0.1682 | likely_benign | 0.1595 | benign | -0.54 | Destabilizing | 0.038 | N | 0.327 | neutral | None | None | None | None | I |
| V/L | 0.0748 | likely_benign | 0.0717 | benign | -0.252 | Destabilizing | None | N | 0.121 | neutral | N | 0.375969327 | None | None | I |
| V/M | 0.0753 | likely_benign | 0.0749 | benign | -0.325 | Destabilizing | 0.214 | N | 0.349 | neutral | None | None | None | None | I |
| V/N | 0.1372 | likely_benign | 0.1249 | benign | -0.26 | Destabilizing | 0.072 | N | 0.373 | neutral | None | None | None | None | I |
| V/P | 0.4474 | ambiguous | 0.4119 | ambiguous | -0.313 | Destabilizing | 0.136 | N | 0.395 | neutral | None | None | None | None | I |
| V/Q | 0.1677 | likely_benign | 0.1573 | benign | -0.49 | Destabilizing | 0.003 | N | 0.259 | neutral | None | None | None | None | I |
| V/R | 0.1457 | likely_benign | 0.1334 | benign | -0.009 | Destabilizing | 0.072 | N | 0.4 | neutral | None | None | None | None | I |
| V/S | 0.0917 | likely_benign | 0.0866 | benign | -0.654 | Destabilizing | 0.001 | N | 0.197 | neutral | None | None | None | None | I |
| V/T | 0.059 | likely_benign | 0.0565 | benign | -0.648 | Destabilizing | None | N | 0.085 | neutral | None | None | None | None | I |
| V/W | 0.5217 | ambiguous | 0.4903 | ambiguous | -0.724 | Destabilizing | 0.864 | D | 0.335 | neutral | None | None | None | None | I |
| V/Y | 0.311 | likely_benign | 0.2918 | benign | -0.434 | Destabilizing | 0.356 | N | 0.44 | 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.