Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13855 | 41788;41789;41790 | chr2:178636008;178636007;178636006 | chr2:179500735;179500734;179500733 |
| N2AB | 12214 | 36865;36866;36867 | chr2:178636008;178636007;178636006 | chr2:179500735;179500734;179500733 |
| N2A | 11287 | 34084;34085;34086 | chr2:178636008;178636007;178636006 | chr2:179500735;179500734;179500733 |
| N2B | 4790 | 14593;14594;14595 | chr2:178636008;178636007;178636006 | chr2:179500735;179500734;179500733 |
| Novex-1 | 4915 | 14968;14969;14970 | chr2:178636008;178636007;178636006 | chr2:179500735;179500734;179500733 |
| Novex-2 | 4982 | 15169;15170;15171 | chr2:178636008;178636007;178636006 | chr2:179500735;179500734;179500733 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs780563642  |
0.254 | 0.977 | N | 0.637 | 0.252 | 0.181679512989 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| E/K | rs780563642 |
0.254 | 0.977 | N | 0.637 | 0.252 | 0.181679512989 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| E/K | rs780563642 |
0.254 | 0.977 | N | 0.637 | 0.252 | 0.181679512989 | gnomAD-4.0.0 | 9.31086E-06 | None | None | None | None | N | None | 1.33633E-05 | 1.67045E-05 | None | 0 | 0 | None | 0 | 0 | 1.01869E-05 | 0 | 1.60411E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.3824 | ambiguous | 0.3534 | ambiguous | -0.361 | Destabilizing | 0.977 | D | 0.678 | prob.neutral | N | 0.33848958 | None | None | N |
| E/C | 0.9755 | likely_pathogenic | 0.9689 | pathogenic | -0.102 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| E/D | 0.4364 | ambiguous | 0.3371 | benign | -0.437 | Destabilizing | 0.117 | N | 0.227 | neutral | N | 0.345701114 | None | None | N |
| E/F | 0.9707 | likely_pathogenic | 0.9636 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| E/G | 0.4004 | ambiguous | 0.3378 | benign | -0.602 | Destabilizing | 0.993 | D | 0.686 | prob.delet. | N | 0.35158044 | None | None | N |
| E/H | 0.8964 | likely_pathogenic | 0.8541 | pathogenic | -0.132 | Destabilizing | 1.0 | D | 0.697 | prob.delet. | None | None | None | None | N |
| E/I | 0.8127 | likely_pathogenic | 0.7901 | pathogenic | 0.252 | Stabilizing | 0.998 | D | 0.815 | deleterious | None | None | None | None | N |
| E/K | 0.446 | ambiguous | 0.3807 | ambiguous | 0.058 | Stabilizing | 0.977 | D | 0.637 | neutral | N | 0.337957463 | None | None | N |
| E/L | 0.794 | likely_pathogenic | 0.7759 | pathogenic | 0.252 | Stabilizing | 0.998 | D | 0.761 | deleterious | None | None | None | None | N |
| E/M | 0.8399 | likely_pathogenic | 0.8174 | pathogenic | 0.35 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| E/N | 0.6872 | likely_pathogenic | 0.6202 | pathogenic | -0.185 | Destabilizing | 0.99 | D | 0.729 | deleterious | None | None | None | None | N |
| E/P | 0.8572 | likely_pathogenic | 0.7975 | pathogenic | 0.069 | Stabilizing | 0.998 | D | 0.778 | deleterious | None | None | None | None | N |
| E/Q | 0.3637 | ambiguous | 0.3174 | benign | -0.126 | Destabilizing | 0.997 | D | 0.725 | deleterious | N | 0.321184485 | None | None | N |
| E/R | 0.6619 | likely_pathogenic | 0.5825 | pathogenic | 0.278 | Stabilizing | 0.998 | D | 0.733 | deleterious | None | None | None | None | N |
| E/S | 0.5284 | ambiguous | 0.4732 | ambiguous | -0.392 | Destabilizing | 0.983 | D | 0.634 | neutral | None | None | None | None | N |
| E/T | 0.5941 | likely_pathogenic | 0.5568 | ambiguous | -0.204 | Destabilizing | 0.995 | D | 0.707 | prob.delet. | None | None | None | None | N |
| E/V | 0.6104 | likely_pathogenic | 0.5679 | pathogenic | 0.069 | Stabilizing | 0.997 | D | 0.764 | deleterious | N | 0.325265724 | None | None | N |
| E/W | 0.9893 | likely_pathogenic | 0.9843 | pathogenic | -0.034 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| E/Y | 0.9463 | likely_pathogenic | 0.9263 | pathogenic | 0.058 | Stabilizing | 1.0 | D | 0.791 | deleterious | 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.