Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25586 | 76981;76982;76983 | chr2:178569376;178569375;178569374 | chr2:179434103;179434102;179434101 |
| N2AB | 23945 | 72058;72059;72060 | chr2:178569376;178569375;178569374 | chr2:179434103;179434102;179434101 |
| N2A | 23018 | 69277;69278;69279 | chr2:178569376;178569375;178569374 | chr2:179434103;179434102;179434101 |
| N2B | 16521 | 49786;49787;49788 | chr2:178569376;178569375;178569374 | chr2:179434103;179434102;179434101 |
| Novex-1 | 16646 | 50161;50162;50163 | chr2:178569376;178569375;178569374 | chr2:179434103;179434102;179434101 |
| Novex-2 | 16713 | 50362;50363;50364 | chr2:178569376;178569375;178569374 | chr2:179434103;179434102;179434101 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs757243379  |
-0.123 | 0.002 | D | 0.113 | 0.147 | 0.166414681773 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| S/G | rs757243379 |
-0.123 | 0.002 | D | 0.113 | 0.147 | 0.166414681773 | gnomAD-4.0.0 | 5.47488E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19698E-06 | 0 | 0 |
| S/I | None | None | 0.896 | D | 0.383 | 0.372 | 0.66819093994 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/R | rs757243379 |
0.124 | 0.004 | D | 0.315 | 0.278 | 0.309839678437 | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.111E-04 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs757243379 |
0.124 | 0.004 | D | 0.315 | 0.278 | 0.309839678437 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93125E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs757243379 |
0.124 | 0.004 | D | 0.315 | 0.278 | 0.309839678437 | gnomAD-4.0.0 | 2.47934E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.69075E-05 | None | 0 | 0 | 0 | 0 | 1.60149E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0679 | likely_benign | 0.0668 | benign | -0.258 | Destabilizing | 0.003 | N | 0.097 | neutral | None | None | None | None | N |
| S/C | 0.1035 | likely_benign | 0.1098 | benign | -0.389 | Destabilizing | 0.99 | D | 0.333 | neutral | N | 0.508083588 | None | None | N |
| S/D | 0.2858 | likely_benign | 0.319 | benign | -0.129 | Destabilizing | 0.617 | D | 0.273 | neutral | None | None | None | None | N |
| S/E | 0.3955 | ambiguous | 0.4274 | ambiguous | -0.24 | Destabilizing | 0.617 | D | 0.291 | neutral | None | None | None | None | N |
| S/F | 0.1973 | likely_benign | 0.2068 | benign | -1.037 | Destabilizing | 0.972 | D | 0.373 | neutral | None | None | None | None | N |
| S/G | 0.0751 | likely_benign | 0.0786 | benign | -0.265 | Destabilizing | 0.002 | N | 0.113 | neutral | D | 0.525538926 | None | None | N |
| S/H | 0.2682 | likely_benign | 0.2917 | benign | -0.618 | Destabilizing | 0.92 | D | 0.332 | neutral | None | None | None | None | N |
| S/I | 0.1019 | likely_benign | 0.1079 | benign | -0.359 | Destabilizing | 0.896 | D | 0.383 | neutral | D | 0.536294637 | None | None | N |
| S/K | 0.4219 | ambiguous | 0.4488 | ambiguous | -0.399 | Destabilizing | 0.447 | N | 0.315 | neutral | None | None | None | None | N |
| S/L | 0.0849 | likely_benign | 0.0847 | benign | -0.359 | Destabilizing | 0.617 | D | 0.387 | neutral | None | None | None | None | N |
| S/M | 0.1639 | likely_benign | 0.1715 | benign | -0.219 | Destabilizing | 0.972 | D | 0.333 | neutral | None | None | None | None | N |
| S/N | 0.0922 | likely_benign | 0.0991 | benign | -0.172 | Destabilizing | 0.549 | D | 0.309 | neutral | N | 0.521229184 | None | None | N |
| S/P | 0.123 | likely_benign | 0.114 | benign | -0.305 | Destabilizing | 0.92 | D | 0.338 | neutral | None | None | None | None | N |
| S/Q | 0.3551 | ambiguous | 0.3858 | ambiguous | -0.396 | Destabilizing | 0.85 | D | 0.295 | neutral | None | None | None | None | N |
| S/R | 0.3853 | ambiguous | 0.4162 | ambiguous | -0.194 | Destabilizing | 0.004 | N | 0.315 | neutral | D | 0.530406028 | None | None | N |
| S/T | 0.0693 | likely_benign | 0.0701 | benign | -0.288 | Destabilizing | 0.334 | N | 0.349 | neutral | N | 0.508126601 | None | None | N |
| S/V | 0.1179 | likely_benign | 0.1259 | benign | -0.305 | Destabilizing | 0.617 | D | 0.368 | neutral | None | None | None | None | N |
| S/W | 0.4119 | ambiguous | 0.4408 | ambiguous | -1.122 | Destabilizing | 0.992 | D | 0.407 | neutral | None | None | None | None | N |
| S/Y | 0.2009 | likely_benign | 0.2088 | benign | -0.818 | Destabilizing | 0.972 | D | 0.367 | 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.