Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16276 | 49051;49052;49053 | chr2:178614688;178614687;178614686 | chr2:179479415;179479414;179479413 |
| N2AB | 14635 | 44128;44129;44130 | chr2:178614688;178614687;178614686 | chr2:179479415;179479414;179479413 |
| N2A | 13708 | 41347;41348;41349 | chr2:178614688;178614687;178614686 | chr2:179479415;179479414;179479413 |
| N2B | 7211 | 21856;21857;21858 | chr2:178614688;178614687;178614686 | chr2:179479415;179479414;179479413 |
| Novex-1 | 7336 | 22231;22232;22233 | chr2:178614688;178614687;178614686 | chr2:179479415;179479414;179479413 |
| Novex-2 | 7403 | 22432;22433;22434 | chr2:178614688;178614687;178614686 | chr2:179479415;179479414;179479413 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs759916327  |
-2.047 | 1.0 | N | 0.806 | 0.517 | 0.668420555392 | gnomAD-2.1.1 | 3.24E-05 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 3.39597E-04 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/T | rs759916327 |
-2.047 | 1.0 | N | 0.806 | 0.517 | 0.668420555392 | gnomAD-4.0.0 | 1.91754E-05 | None | None | None | None | N | None | 2.99437E-05 | 2.24175E-05 | None | 0 | 2.28172E-04 | None | 0 | 0 | 1.43999E-05 | 1.16031E-05 | 0 |
| I/V | None | None | 0.993 | N | 0.343 | 0.207 | 0.453772157364 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9498 | likely_pathogenic | 0.9267 | pathogenic | -2.573 | Highly Destabilizing | 0.999 | D | 0.614 | neutral | None | None | None | None | N |
| I/C | 0.9789 | likely_pathogenic | 0.9731 | pathogenic | -1.961 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| I/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.289 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| I/E | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -2.109 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| I/F | 0.6659 | likely_pathogenic | 0.6229 | pathogenic | -1.56 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.454719534 | None | None | N |
| I/G | 0.9966 | likely_pathogenic | 0.9951 | pathogenic | -3.094 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| I/H | 0.9979 | likely_pathogenic | 0.9973 | pathogenic | -2.221 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| I/K | 0.9966 | likely_pathogenic | 0.9959 | pathogenic | -2.053 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| I/L | 0.3576 | ambiguous | 0.3276 | benign | -1.099 | Destabilizing | 0.993 | D | 0.388 | neutral | N | 0.435824891 | None | None | N |
| I/M | 0.3121 | likely_benign | 0.2675 | benign | -0.991 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.534017276 | None | None | N |
| I/N | 0.9939 | likely_pathogenic | 0.9911 | pathogenic | -2.257 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.646151139 | None | None | N |
| I/P | 0.9985 | likely_pathogenic | 0.9979 | pathogenic | -1.567 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| I/Q | 0.9959 | likely_pathogenic | 0.9946 | pathogenic | -2.198 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| I/R | 0.9945 | likely_pathogenic | 0.9934 | pathogenic | -1.583 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| I/S | 0.99 | likely_pathogenic | 0.9844 | pathogenic | -3.053 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.646015402 | None | None | N |
| I/T | 0.9387 | likely_pathogenic | 0.9126 | pathogenic | -2.719 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.506250885 | None | None | N |
| I/V | 0.1829 | likely_benign | 0.1741 | benign | -1.567 | Destabilizing | 0.993 | D | 0.343 | neutral | N | 0.437830606 | None | None | N |
| I/W | 0.9941 | likely_pathogenic | 0.9927 | pathogenic | -1.772 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| I/Y | 0.9769 | likely_pathogenic | 0.9726 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.837 | 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.