Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9191 | 27796;27797;27798 | chr2:178712351;178712350;178712349 | chr2:179577078;179577077;179577076 |
| N2AB | 8874 | 26845;26846;26847 | chr2:178712351;178712350;178712349 | chr2:179577078;179577077;179577076 |
| N2A | 7947 | 24064;24065;24066 | chr2:178712351;178712350;178712349 | chr2:179577078;179577077;179577076 |
| 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/R | rs141502557  |
0.044 | 1.0 | D | 0.871 | 0.744 | 0.608446283964 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs141502557 |
0.044 | 1.0 | D | 0.871 | 0.744 | 0.608446283964 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs141502557 |
0.044 | 1.0 | D | 0.871 | 0.744 | 0.608446283964 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| G/R | rs141502557 |
0.044 | 1.0 | D | 0.871 | 0.744 | 0.608446283964 | gnomAD-4.0.0 | 1.8591E-06 | None | None | None | None | I | None | 1.33316E-05 | 0 | None | 0 | 2.22856E-05 | None | 0 | 0 | 8.47643E-07 | 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 | 0.6852 | likely_pathogenic | 0.6251 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.633803713 | None | None | I |
| G/C | 0.8949 | likely_pathogenic | 0.8572 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/D | 0.8541 | likely_pathogenic | 0.8307 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/E | 0.8636 | likely_pathogenic | 0.8511 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.561643246 | None | None | I |
| G/F | 0.9745 | likely_pathogenic | 0.9704 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/H | 0.9518 | likely_pathogenic | 0.9427 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/I | 0.958 | likely_pathogenic | 0.9518 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/K | 0.9405 | likely_pathogenic | 0.9359 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/L | 0.955 | likely_pathogenic | 0.9455 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/M | 0.966 | likely_pathogenic | 0.9581 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/N | 0.8931 | likely_pathogenic | 0.8719 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/P | 0.997 | likely_pathogenic | 0.9965 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/Q | 0.8757 | likely_pathogenic | 0.8582 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/R | 0.8465 | likely_pathogenic | 0.8369 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.634005517 | None | None | I |
| G/S | 0.4994 | ambiguous | 0.448 | ambiguous | -0.517 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/T | 0.8622 | likely_pathogenic | 0.837 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/V | 0.9167 | likely_pathogenic | 0.9011 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.650862456 | None | None | I |
| G/W | 0.9455 | likely_pathogenic | 0.9387 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/Y | 0.9607 | likely_pathogenic | 0.9524 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
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.