Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3495 | 10708;10709;10710 | chr2:178757737;178757736;178757735 | chr2:179622464;179622463;179622462 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3449 | 10570;10571;10572 | chr2:178757737;178757736;178757735 | chr2:179622464;179622463;179622462 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | None | None | None | None | None | 0.101 | None | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1595 | likely_benign | None | None | -0.467 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/C | 0.8692 | likely_pathogenic | None | None | -0.31 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/D | 0.1744 | likely_benign | None | None | -0.67 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/F | 0.7549 | likely_pathogenic | None | None | -0.101 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/G | 0.2431 | likely_benign | None | None | -0.743 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/H | 0.3814 | ambiguous | None | None | -0.064 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/I | 0.3135 | likely_benign | None | None | 0.253 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/K | 0.107 | likely_benign | None | None | -0.149 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/L | 0.4085 | ambiguous | None | None | 0.253 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/M | 0.465 | ambiguous | None | None | 0.323 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/N | 0.2369 | likely_benign | None | None | -0.517 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/P | 0.8746 | likely_pathogenic | None | None | 0.034 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/Q | 0.1192 | likely_benign | None | None | -0.423 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/R | 0.1887 | likely_benign | None | None | 0.159 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/S | 0.2053 | likely_benign | None | None | -0.717 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/T | 0.1953 | likely_benign | None | None | -0.494 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/V | 0.1972 | likely_benign | None | None | 0.034 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/W | 0.9054 | likely_pathogenic | None | None | 0.087 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/Y | 0.6173 | likely_pathogenic | None | None | 0.135 | Stabilizing | None | None | None | None | 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.