Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29639 | 89140;89141;89142 | chr2:178554196;178554195;178554194 | chr2:179418923;179418922;179418921 |
| N2AB | 27998 | 84217;84218;84219 | chr2:178554196;178554195;178554194 | chr2:179418923;179418922;179418921 |
| N2A | 27071 | 81436;81437;81438 | chr2:178554196;178554195;178554194 | chr2:179418923;179418922;179418921 |
| N2B | 20574 | 61945;61946;61947 | chr2:178554196;178554195;178554194 | chr2:179418923;179418922;179418921 |
| Novex-1 | 20699 | 62320;62321;62322 | chr2:178554196;178554195;178554194 | chr2:179418923;179418922;179418921 |
| Novex-2 | 20766 | 62521;62522;62523 | chr2:178554196;178554195;178554194 | chr2:179418923;179418922;179418921 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/K | rs1039502047  |
None | None | N | 0.312 | 0.143 | 0.21737058555 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/M | None | None | 0.001 | N | 0.228 | 0.114 | 0.195762928549 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| I/V | rs1267455637 |
-0.514 | None | N | 0.087 | 0.145 | 0.253726318573 | gnomAD-2.1.1 | 4.27E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.64E-05 | None | 0 | 0 | 0 |
| I/V | rs1267455637 |
-0.514 | None | N | 0.087 | 0.145 | 0.253726318573 | gnomAD-4.0.0 | 1.37921E-06 | None | None | None | None | I | None | 3.05549E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1948E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1422 | likely_benign | 0.1475 | benign | -0.987 | Destabilizing | 0.007 | N | 0.25 | neutral | None | None | None | None | I |
| I/C | 0.3613 | ambiguous | 0.382 | ambiguous | -0.588 | Destabilizing | 0.356 | N | 0.451 | neutral | None | None | None | None | I |
| I/D | 0.3782 | ambiguous | 0.412 | ambiguous | -0.372 | Destabilizing | 0.072 | N | 0.442 | neutral | None | None | None | None | I |
| I/E | 0.2843 | likely_benign | 0.2993 | benign | -0.462 | Destabilizing | 0.031 | N | 0.32 | neutral | None | None | None | None | I |
| I/F | 0.1135 | likely_benign | 0.1347 | benign | -0.958 | Destabilizing | 0.072 | N | 0.414 | neutral | None | None | None | None | I |
| I/G | 0.338 | likely_benign | 0.3741 | ambiguous | -1.184 | Destabilizing | 0.031 | N | 0.349 | neutral | None | None | None | None | I |
| I/H | 0.2453 | likely_benign | 0.2709 | benign | -0.446 | Destabilizing | 0.628 | D | 0.426 | neutral | None | None | None | None | I |
| I/K | 0.1249 | likely_benign | 0.1333 | benign | -0.449 | Destabilizing | None | N | 0.312 | neutral | N | 0.364386896 | None | None | I |
| I/L | 0.0816 | likely_benign | 0.0879 | benign | -0.578 | Destabilizing | 0.001 | N | 0.211 | neutral | N | 0.485945096 | None | None | I |
| I/M | 0.0751 | likely_benign | 0.078 | benign | -0.392 | Destabilizing | 0.001 | N | 0.228 | neutral | N | 0.486811887 | None | None | I |
| I/N | 0.1153 | likely_benign | 0.1244 | benign | -0.165 | Destabilizing | 0.072 | N | 0.445 | neutral | None | None | None | None | I |
| I/P | 0.2215 | likely_benign | 0.2331 | benign | -0.68 | Destabilizing | 0.136 | N | 0.5 | neutral | None | None | None | None | I |
| I/Q | 0.1862 | likely_benign | 0.1957 | benign | -0.448 | Destabilizing | 0.072 | N | 0.503 | neutral | None | None | None | None | I |
| I/R | 0.1222 | likely_benign | 0.141 | benign | 0.162 | Stabilizing | 0.029 | N | 0.426 | neutral | N | 0.408561748 | None | None | I |
| I/S | 0.1253 | likely_benign | 0.1381 | benign | -0.677 | Destabilizing | 0.016 | N | 0.335 | neutral | None | None | None | None | I |
| I/T | 0.0901 | likely_benign | 0.0927 | benign | -0.658 | Destabilizing | None | N | 0.16 | neutral | N | 0.380895144 | None | None | I |
| I/V | 0.0621 | likely_benign | 0.0605 | benign | -0.68 | Destabilizing | None | N | 0.087 | neutral | N | 0.44192496 | None | None | I |
| I/W | 0.6193 | likely_pathogenic | 0.6766 | pathogenic | -0.935 | Destabilizing | 0.864 | D | 0.435 | neutral | None | None | None | None | I |
| I/Y | 0.2997 | likely_benign | 0.3328 | benign | -0.69 | Destabilizing | 0.356 | N | 0.535 | 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.