Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8686 | 26281;26282;26283 | chr2:178715130;178715129;178715128 | chr2:179579857;179579856;179579855 |
| N2AB | 8369 | 25330;25331;25332 | chr2:178715130;178715129;178715128 | chr2:179579857;179579856;179579855 |
| N2A | 7442 | 22549;22550;22551 | chr2:178715130;178715129;178715128 | chr2:179579857;179579856;179579855 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.062 | N | 0.453 | 0.108 | 0.101711395817 | gnomAD-4.0.0 | 6.84242E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1595E-05 | 0 |
| G/S | rs370578197  |
-0.258 | 0.002 | N | 0.231 | 0.046 | None | gnomAD-2.1.1 | 8.92E-05 | None | None | None | None | N | None | 1.24028E-04 | 4.80606E-04 | None | 0 | 5.12E-05 | None | 0 | None | 4E-05 | 2.34E-05 | 0 |
| G/S | rs370578197 |
-0.258 | 0.002 | N | 0.231 | 0.046 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 1.69066E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs370578197 |
-0.258 | 0.002 | N | 0.231 | 0.046 | None | gnomAD-4.0.0 | 3.0988E-05 | None | None | None | None | N | None | 1.46949E-04 | 3.16751E-04 | None | 0 | 2.22806E-05 | None | 0 | 3.28947E-04 | 1.27151E-05 | 1.09801E-05 | 1.60113E-05 |
| G/V | None | None | 0.865 | N | 0.62 | 0.218 | 0.537915542499 | gnomAD-4.0.0 | 1.36848E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79904E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1531 | likely_benign | 0.1295 | benign | -0.202 | Destabilizing | 0.062 | N | 0.453 | neutral | N | 0.514488773 | None | None | N |
| G/C | 0.244 | likely_benign | 0.2284 | benign | -0.894 | Destabilizing | 0.979 | D | 0.647 | neutral | N | 0.487233497 | None | None | N |
| G/D | 0.5374 | ambiguous | 0.4307 | ambiguous | -0.353 | Destabilizing | 0.254 | N | 0.369 | neutral | N | 0.45037858 | None | None | N |
| G/E | 0.59 | likely_pathogenic | 0.4708 | ambiguous | -0.501 | Destabilizing | 0.547 | D | 0.473 | neutral | None | None | None | None | N |
| G/F | 0.7358 | likely_pathogenic | 0.6574 | pathogenic | -0.854 | Destabilizing | 0.945 | D | 0.624 | neutral | None | None | None | None | N |
| G/H | 0.5622 | ambiguous | 0.4947 | ambiguous | -0.392 | Destabilizing | 0.985 | D | 0.538 | neutral | None | None | None | None | N |
| G/I | 0.4525 | ambiguous | 0.3762 | ambiguous | -0.325 | Destabilizing | 0.894 | D | 0.635 | neutral | None | None | None | None | N |
| G/K | 0.7692 | likely_pathogenic | 0.689 | pathogenic | -0.747 | Destabilizing | 0.809 | D | 0.481 | neutral | None | None | None | None | N |
| G/L | 0.4805 | ambiguous | 0.3928 | ambiguous | -0.325 | Destabilizing | 0.894 | D | 0.589 | neutral | None | None | None | None | N |
| G/M | 0.5379 | ambiguous | 0.4557 | ambiguous | -0.53 | Destabilizing | 0.995 | D | 0.628 | neutral | None | None | None | None | N |
| G/N | 0.2953 | likely_benign | 0.2558 | benign | -0.429 | Destabilizing | 0.07 | N | 0.26 | neutral | None | None | None | None | N |
| G/P | 0.9515 | likely_pathogenic | 0.919 | pathogenic | -0.251 | Destabilizing | 0.76 | D | 0.524 | neutral | None | None | None | None | N |
| G/Q | 0.5407 | ambiguous | 0.4682 | ambiguous | -0.658 | Destabilizing | 0.894 | D | 0.527 | neutral | None | None | None | None | N |
| G/R | 0.5965 | likely_pathogenic | 0.5065 | ambiguous | -0.358 | Destabilizing | 0.942 | D | 0.529 | neutral | N | 0.508370877 | None | None | N |
| G/S | 0.0674 | likely_benign | 0.0628 | benign | -0.602 | Destabilizing | 0.002 | N | 0.231 | neutral | N | 0.385345666 | None | None | N |
| G/T | 0.1421 | likely_benign | 0.1202 | benign | -0.671 | Destabilizing | 0.547 | D | 0.45 | neutral | None | None | None | None | N |
| G/V | 0.2939 | likely_benign | 0.2471 | benign | -0.251 | Destabilizing | 0.865 | D | 0.62 | neutral | N | 0.472002851 | None | None | N |
| G/W | 0.5579 | ambiguous | 0.4904 | ambiguous | -1.024 | Destabilizing | 0.995 | D | 0.606 | neutral | None | None | None | None | N |
| G/Y | 0.6118 | likely_pathogenic | 0.5147 | ambiguous | -0.672 | Destabilizing | 0.945 | D | 0.627 | 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.