Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19676 | 59251;59252;59253 | chr2:178593182;178593181;178593180 | chr2:179457909;179457908;179457907 |
| N2AB | 18035 | 54328;54329;54330 | chr2:178593182;178593181;178593180 | chr2:179457909;179457908;179457907 |
| N2A | 17108 | 51547;51548;51549 | chr2:178593182;178593181;178593180 | chr2:179457909;179457908;179457907 |
| N2B | 10611 | 32056;32057;32058 | chr2:178593182;178593181;178593180 | chr2:179457909;179457908;179457907 |
| Novex-1 | 10736 | 32431;32432;32433 | chr2:178593182;178593181;178593180 | chr2:179457909;179457908;179457907 |
| Novex-2 | 10803 | 32632;32633;32634 | chr2:178593182;178593181;178593180 | chr2:179457909;179457908;179457907 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 0.999 | N | 0.561 | 0.121 | 0.254761474806 | gnomAD-4.0.0 | 1.20035E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31253E-06 | 0 | 0 |
| D/Y | rs186215280  |
0.224 | 1.0 | N | 0.843 | 0.389 | None | gnomAD-2.1.1 | 5.24E-05 | None | None | None | None | I | None | 0 | 3.78215E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/Y | rs186215280 |
0.224 | 1.0 | N | 0.843 | 0.389 | None | gnomAD-3.1.2 | 2.03795E-04 | None | None | None | None | I | None | 0 | 1.96515E-03 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/Y | rs186215280 |
0.224 | 1.0 | N | 0.843 | 0.389 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| D/Y | rs186215280 |
0.224 | 1.0 | N | 0.843 | 0.389 | None | gnomAD-4.0.0 | 6.28081E-05 | None | None | None | None | I | None | 0 | 7.80296E-04 | None | 0 | 0 | None | 0 | 0 | 2.39415E-06 | 0 | 5.69087E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.6409 | likely_pathogenic | 0.6217 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.467489834 | None | None | I |
| D/C | 0.9438 | likely_pathogenic | 0.9338 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| D/E | 0.563 | ambiguous | 0.5621 | ambiguous | -0.314 | Destabilizing | 0.999 | D | 0.561 | neutral | N | 0.473762445 | None | None | I |
| D/F | 0.9162 | likely_pathogenic | 0.9103 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| D/G | 0.7918 | likely_pathogenic | 0.7473 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.509221813 | None | None | I |
| D/H | 0.8037 | likely_pathogenic | 0.7835 | pathogenic | -0.096 | Destabilizing | 1.0 | D | 0.887 | deleterious | N | 0.499794254 | None | None | I |
| D/I | 0.8599 | likely_pathogenic | 0.8489 | pathogenic | 0.161 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| D/K | 0.9137 | likely_pathogenic | 0.9041 | pathogenic | 0.146 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| D/L | 0.8215 | likely_pathogenic | 0.7985 | pathogenic | 0.161 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| D/M | 0.932 | likely_pathogenic | 0.9169 | pathogenic | 0.254 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| D/N | 0.3329 | likely_benign | 0.2893 | benign | -0.05 | Destabilizing | 1.0 | D | 0.794 | deleterious | N | 0.484883516 | None | None | I |
| D/P | 0.9279 | likely_pathogenic | 0.8991 | pathogenic | 0.034 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| D/Q | 0.8779 | likely_pathogenic | 0.8726 | pathogenic | -0.029 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| D/R | 0.9396 | likely_pathogenic | 0.9387 | pathogenic | 0.344 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| D/S | 0.5215 | ambiguous | 0.4763 | ambiguous | -0.185 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| D/T | 0.783 | likely_pathogenic | 0.7705 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| D/V | 0.728 | likely_pathogenic | 0.7077 | pathogenic | 0.034 | Stabilizing | 1.0 | D | 0.803 | deleterious | N | 0.46024538 | None | None | I |
| D/W | 0.9815 | likely_pathogenic | 0.9815 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| D/Y | 0.6005 | likely_pathogenic | 0.5703 | pathogenic | -0.053 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.465298263 | 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.