Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3511 | 10756;10757;10758 | chr2:178757689;178757688;178757687 | chr2:179622416;179622415;179622414 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3465 | 10618;10619;10620 | chr2:178757689;178757688;178757687 | chr2:179622416;179622415;179622414 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | None | None | None | 0.233 | None | gnomAD-4.0.0 | 1.59114E-06 | None | None | None | None | I | None | 5.65291E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2535 | likely_benign | None | None | -1.709 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/C | 0.8464 | likely_pathogenic | None | None | -1.099 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/D | 0.63 | likely_pathogenic | None | None | -2.071 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| V/E | 0.4709 | ambiguous | None | None | -1.939 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/F | 0.2591 | likely_benign | None | None | -1.092 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/G | 0.4253 | ambiguous | None | None | -2.168 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| V/H | 0.7315 | likely_pathogenic | None | None | -1.995 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/I | 0.0858 | likely_benign | None | None | -0.476 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/K | 0.4734 | ambiguous | None | None | -1.526 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/L | 0.2371 | likely_benign | None | None | -0.476 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/M | 0.1505 | likely_benign | None | None | -0.34 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/N | 0.5012 | ambiguous | None | None | -1.575 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/P | 0.9293 | likely_pathogenic | None | None | -0.856 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Q | 0.5117 | ambiguous | None | None | -1.538 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/R | 0.4169 | ambiguous | None | None | -1.238 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/S | 0.3867 | ambiguous | None | None | -2.129 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| V/T | 0.2125 | likely_benign | None | None | -1.871 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/W | 0.8828 | likely_pathogenic | None | None | -1.583 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Y | 0.7081 | likely_pathogenic | None | None | -1.185 | Destabilizing | 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.