Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3729 | 11410;11411;11412 | chr2:178756291;178756290;178756289 | chr2:179621018;179621017;179621016 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3558 | 10897;10898;10899 | chr2:178756291;178756290;178756289 | chr2:179621018;179621017;179621016 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | None | None | None | None | None | 0.08 | None | gnomAD-4.0.0 | 1.59119E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8582E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1894 | likely_benign | None | None | -1.842 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/C | 0.3663 | ambiguous | None | None | -1.166 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/D | 0.4215 | ambiguous | None | None | -0.947 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/E | 0.2084 | likely_benign | None | None | -0.91 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/F | 0.1019 | likely_benign | None | None | -1.376 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/G | 0.4063 | ambiguous | None | None | -2.196 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| L/H | 0.128 | likely_benign | None | None | -1.365 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/I | 0.0735 | likely_benign | None | None | -0.924 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/K | 0.1452 | likely_benign | None | None | -0.983 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/M | 0.1202 | likely_benign | None | None | -0.714 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/N | 0.2079 | likely_benign | None | None | -0.849 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/P | 0.2585 | likely_benign | None | None | -1.2 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/Q | 0.1053 | likely_benign | None | None | -0.999 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/R | 0.1043 | likely_benign | None | None | -0.468 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/S | 0.1553 | likely_benign | None | None | -1.606 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/T | 0.1438 | likely_benign | None | None | -1.443 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/V | 0.0861 | likely_benign | None | None | -1.2 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/W | 0.1838 | likely_benign | None | None | -1.43 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/Y | 0.237 | likely_benign | None | None | -1.181 | 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.