Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33582 | 100969;100970;100971 | chr2:178536003;178536002;178536001 | chr2:179400730;179400729;179400728 |
| N2AB | 31941 | 96046;96047;96048 | chr2:178536003;178536002;178536001 | chr2:179400730;179400729;179400728 |
| N2A | 31014 | 93265;93266;93267 | chr2:178536003;178536002;178536001 | chr2:179400730;179400729;179400728 |
| N2B | 24517 | 73774;73775;73776 | chr2:178536003;178536002;178536001 | chr2:179400730;179400729;179400728 |
| Novex-1 | 24642 | 74149;74150;74151 | chr2:178536003;178536002;178536001 | chr2:179400730;179400729;179400728 |
| Novex-2 | 24709 | 74350;74351;74352 | chr2:178536003;178536002;178536001 | chr2:179400730;179400729;179400728 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/S | rs1289282264  |
-0.283 | 0.98 | N | 0.591 | 0.268 | 0.447803500395 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| T/S | rs1289282264 |
-0.283 | 0.98 | N | 0.591 | 0.268 | 0.447803500395 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/S | rs1289282264 |
-0.283 | 0.98 | N | 0.591 | 0.268 | 0.447803500395 | gnomAD-4.0.0 | 6.57281E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47011E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2546 | likely_benign | 0.1996 | benign | -0.725 | Destabilizing | 0.98 | D | 0.596 | neutral | N | 0.510278685 | None | None | N |
| T/C | 0.7766 | likely_pathogenic | 0.7157 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| T/D | 0.8564 | likely_pathogenic | 0.7813 | pathogenic | 0.241 | Stabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| T/E | 0.7655 | likely_pathogenic | 0.6682 | pathogenic | 0.187 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| T/F | 0.6067 | likely_pathogenic | 0.5096 | ambiguous | -1.071 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| T/G | 0.6921 | likely_pathogenic | 0.6438 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| T/H | 0.6348 | likely_pathogenic | 0.558 | ambiguous | -1.221 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| T/I | 0.3991 | ambiguous | 0.3062 | benign | -0.391 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.491279098 | None | None | N |
| T/K | 0.5956 | likely_pathogenic | 0.492 | ambiguous | -0.473 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| T/L | 0.313 | likely_benign | 0.2491 | benign | -0.391 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| T/M | 0.1704 | likely_benign | 0.1469 | benign | -0.098 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| T/N | 0.3276 | likely_benign | 0.2654 | benign | -0.262 | Destabilizing | 0.998 | D | 0.772 | deleterious | N | 0.477398262 | None | None | N |
| T/P | 0.6416 | likely_pathogenic | 0.5435 | ambiguous | -0.473 | Destabilizing | 0.998 | D | 0.858 | deleterious | N | 0.497381938 | None | None | N |
| T/Q | 0.5228 | ambiguous | 0.447 | ambiguous | -0.519 | Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | N |
| T/R | 0.5731 | likely_pathogenic | 0.4661 | ambiguous | -0.228 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| T/S | 0.2594 | likely_benign | 0.2124 | benign | -0.572 | Destabilizing | 0.98 | D | 0.591 | neutral | N | 0.459868507 | None | None | N |
| T/V | 0.2807 | likely_benign | 0.2405 | benign | -0.473 | Destabilizing | 0.998 | D | 0.638 | neutral | None | None | None | None | N |
| T/W | 0.9037 | likely_pathogenic | 0.8697 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| T/Y | 0.6781 | likely_pathogenic | 0.597 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.886 | 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.