Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32906 | 98941;98942;98943 | chr2:178539219;178539218;178539217 | chr2:179403946;179403945;179403944 |
| N2AB | 31265 | 94018;94019;94020 | chr2:178539219;178539218;178539217 | chr2:179403946;179403945;179403944 |
| N2A | 30338 | 91237;91238;91239 | chr2:178539219;178539218;178539217 | chr2:179403946;179403945;179403944 |
| N2B | 23841 | 71746;71747;71748 | chr2:178539219;178539218;178539217 | chr2:179403946;179403945;179403944 |
| Novex-1 | 23966 | 72121;72122;72123 | chr2:178539219;178539218;178539217 | chr2:179403946;179403945;179403944 |
| Novex-2 | 24033 | 72322;72323;72324 | chr2:178539219;178539218;178539217 | chr2:179403946;179403945;179403944 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs182683829  |
0.026 | None | N | 0.189 | 0.068 | None | gnomAD-2.1.1 | 5.06947E-04 | None | None | None | None | N | None | 8.27E-05 | 1.41515E-04 | None | 9.68E-05 | 0 | None | 9.81E-05 | None | 1.20096E-04 | 9.68357E-04 | 5.61482E-04 |
| V/I | rs182683829 |
0.026 | None | N | 0.189 | 0.068 | None | gnomAD-3.1.2 | 2.89158E-04 | None | None | None | None | N | None | 1.20633E-04 | 6.55E-05 | 0 | 0 | 1.92678E-04 | None | 1.88501E-04 | 0 | 4.70381E-04 | 6.21891E-04 | 0 |
| V/I | rs182683829 |
0.026 | None | N | 0.189 | 0.068 | None | gnomAD-4.0.0 | 3.46404E-04 | None | None | None | None | N | None | 9.3291E-05 | 8.33222E-05 | None | 3.37861E-05 | 2.22876E-05 | None | 1.5623E-04 | 1.65071E-03 | 3.96712E-04 | 1.53728E-04 | 6.88352E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7023 | likely_pathogenic | 0.6395 | pathogenic | -1.46 | Destabilizing | 0.104 | N | 0.554 | neutral | N | 0.499991828 | None | None | N |
| V/C | 0.9087 | likely_pathogenic | 0.848 | pathogenic | -1.164 | Destabilizing | 0.968 | D | 0.712 | prob.delet. | None | None | None | None | N |
| V/D | 0.9456 | likely_pathogenic | 0.9397 | pathogenic | -0.883 | Destabilizing | 0.726 | D | 0.809 | deleterious | None | None | None | None | N |
| V/E | 0.8882 | likely_pathogenic | 0.8751 | pathogenic | -0.825 | Destabilizing | 0.667 | D | 0.767 | deleterious | N | 0.509181273 | None | None | N |
| V/F | 0.4219 | ambiguous | 0.3501 | ambiguous | -0.941 | Destabilizing | 0.567 | D | 0.691 | prob.neutral | None | None | None | None | N |
| V/G | 0.7977 | likely_pathogenic | 0.7595 | pathogenic | -1.844 | Destabilizing | 0.667 | D | 0.768 | deleterious | N | 0.519688204 | None | None | N |
| V/H | 0.9581 | likely_pathogenic | 0.9395 | pathogenic | -1.349 | Destabilizing | 0.968 | D | 0.793 | deleterious | None | None | None | None | N |
| V/I | 0.0661 | likely_benign | 0.0587 | benign | -0.488 | Destabilizing | None | N | 0.189 | neutral | N | 0.477752474 | None | None | N |
| V/K | 0.9042 | likely_pathogenic | 0.8907 | pathogenic | -1.202 | Destabilizing | 0.726 | D | 0.772 | deleterious | None | None | None | None | N |
| V/L | 0.3574 | ambiguous | 0.2526 | benign | -0.488 | Destabilizing | 0.009 | N | 0.456 | neutral | N | 0.479811344 | None | None | N |
| V/M | 0.3251 | likely_benign | 0.2527 | benign | -0.51 | Destabilizing | 0.567 | D | 0.605 | neutral | None | None | None | None | N |
| V/N | 0.8635 | likely_pathogenic | 0.8201 | pathogenic | -1.095 | Destabilizing | 0.89 | D | 0.813 | deleterious | None | None | None | None | N |
| V/P | 0.85 | likely_pathogenic | 0.8017 | pathogenic | -0.777 | Destabilizing | 0.89 | D | 0.782 | deleterious | None | None | None | None | N |
| V/Q | 0.8962 | likely_pathogenic | 0.8696 | pathogenic | -1.134 | Destabilizing | 0.89 | D | 0.785 | deleterious | None | None | None | None | N |
| V/R | 0.8916 | likely_pathogenic | 0.8728 | pathogenic | -0.849 | Destabilizing | 0.726 | D | 0.813 | deleterious | None | None | None | None | N |
| V/S | 0.8313 | likely_pathogenic | 0.7831 | pathogenic | -1.752 | Destabilizing | 0.726 | D | 0.703 | prob.neutral | None | None | None | None | N |
| V/T | 0.6944 | likely_pathogenic | 0.6456 | pathogenic | -1.558 | Destabilizing | 0.272 | N | 0.599 | neutral | None | None | None | None | N |
| V/W | 0.9591 | likely_pathogenic | 0.9342 | pathogenic | -1.157 | Destabilizing | 0.968 | D | 0.751 | deleterious | None | None | None | None | N |
| V/Y | 0.8513 | likely_pathogenic | 0.7993 | pathogenic | -0.838 | Destabilizing | 0.726 | D | 0.725 | prob.delet. | 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.