Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23015 | 69268;69269;69270 | chr2:178577292;178577291;178577290 | chr2:179442019;179442018;179442017 |
| N2AB | 21374 | 64345;64346;64347 | chr2:178577292;178577291;178577290 | chr2:179442019;179442018;179442017 |
| N2A | 20447 | 61564;61565;61566 | chr2:178577292;178577291;178577290 | chr2:179442019;179442018;179442017 |
| N2B | 13950 | 42073;42074;42075 | chr2:178577292;178577291;178577290 | chr2:179442019;179442018;179442017 |
| Novex-1 | 14075 | 42448;42449;42450 | chr2:178577292;178577291;178577290 | chr2:179442019;179442018;179442017 |
| Novex-2 | 14142 | 42649;42650;42651 | chr2:178577292;178577291;178577290 | chr2:179442019;179442018;179442017 |
| 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/P | rs1416377694  |
None | 0.815 | N | 0.484 | 0.465 | None | gnomAD-4.0.0 | 4.10637E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39778E-06 | 0 | 0 |
| A/T | None | None | 0.001 | N | 0.116 | 0.1 | 0.27855597813 | gnomAD-4.0.0 | 6.84395E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5264E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs771710562 |
-0.388 | 0.716 | N | 0.477 | 0.346 | None | gnomAD-2.1.1 | 4.29E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.17E-05 | None | 0 | None | 0 | 8.61E-05 | 0 |
| A/V | rs771710562 |
-0.388 | 0.716 | N | 0.477 | 0.346 | None | gnomAD-3.1.2 | 3.3E-05 | None | None | None | None | N | None | 7.29E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.95E-05 | 0 | 0 |
| A/V | rs771710562 |
-0.388 | 0.716 | N | 0.477 | 0.346 | None | gnomAD-4.0.0 | 3.65904E-05 | None | None | None | None | N | None | 4.02005E-05 | 1.67185E-05 | None | 0 | 0 | None | 1.56529E-05 | 0 | 4.23939E-05 | 3.29649E-05 | 1.60256E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3976 | ambiguous | 0.3804 | ambiguous | -0.861 | Destabilizing | 0.984 | D | 0.457 | neutral | None | None | None | None | N |
| A/D | 0.5476 | ambiguous | 0.456 | ambiguous | -0.528 | Destabilizing | 0.742 | D | 0.521 | neutral | None | None | None | None | N |
| A/E | 0.4584 | ambiguous | 0.3829 | ambiguous | -0.604 | Destabilizing | 0.846 | D | 0.499 | neutral | N | 0.476760757 | None | None | N |
| A/F | 0.4594 | ambiguous | 0.4443 | ambiguous | -1.005 | Destabilizing | 0.953 | D | 0.56 | neutral | None | None | None | None | N |
| A/G | 0.1062 | likely_benign | 0.1048 | benign | -0.922 | Destabilizing | 0.532 | D | 0.442 | neutral | N | 0.504584864 | None | None | N |
| A/H | 0.5544 | ambiguous | 0.5048 | ambiguous | -0.995 | Destabilizing | 0.996 | D | 0.54 | neutral | None | None | None | None | N |
| A/I | 0.3688 | ambiguous | 0.3479 | ambiguous | -0.375 | Destabilizing | 0.742 | D | 0.469 | neutral | None | None | None | None | N |
| A/K | 0.5639 | ambiguous | 0.4656 | ambiguous | -0.94 | Destabilizing | 0.742 | D | 0.497 | neutral | None | None | None | None | N |
| A/L | 0.2668 | likely_benign | 0.249 | benign | -0.375 | Destabilizing | 0.373 | N | 0.51 | neutral | None | None | None | None | N |
| A/M | 0.2651 | likely_benign | 0.2306 | benign | -0.322 | Destabilizing | 0.984 | D | 0.479 | neutral | None | None | None | None | N |
| A/N | 0.3437 | ambiguous | 0.3093 | benign | -0.64 | Destabilizing | 0.742 | D | 0.526 | neutral | None | None | None | None | N |
| A/P | 0.8072 | likely_pathogenic | 0.8046 | pathogenic | -0.453 | Destabilizing | 0.815 | D | 0.484 | neutral | N | 0.508333396 | None | None | N |
| A/Q | 0.4428 | ambiguous | 0.3856 | ambiguous | -0.825 | Destabilizing | 0.953 | D | 0.484 | neutral | None | None | None | None | N |
| A/R | 0.469 | ambiguous | 0.3924 | ambiguous | -0.58 | Destabilizing | 0.91 | D | 0.482 | neutral | None | None | None | None | N |
| A/S | 0.0812 | likely_benign | 0.0809 | benign | -1.018 | Destabilizing | 0.012 | N | 0.114 | neutral | N | 0.403764508 | None | None | N |
| A/T | 0.0786 | likely_benign | 0.0745 | benign | -0.994 | Destabilizing | 0.001 | N | 0.116 | neutral | N | 0.444632483 | None | None | N |
| A/V | 0.2072 | likely_benign | 0.1978 | benign | -0.453 | Destabilizing | 0.716 | D | 0.477 | neutral | N | 0.486746421 | None | None | N |
| A/W | 0.848 | likely_pathogenic | 0.8327 | pathogenic | -1.248 | Destabilizing | 0.996 | D | 0.617 | neutral | None | None | None | None | N |
| A/Y | 0.5532 | ambiguous | 0.5391 | ambiguous | -0.861 | Destabilizing | 0.984 | D | 0.57 | 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.