Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3545 | 10858;10859;10860 | chr2:178757587;178757586;178757585 | chr2:179622314;179622313;179622312 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3499 | 10720;10721;10722 | chr2:178757587;178757586;178757585 | chr2:179622314;179622313;179622312 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs1319587121  |
-0.031 | None | None | None | 0.123 | None | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.01E-06 | 0 |
| A/V | rs1319587121 |
-0.031 | None | None | None | 0.123 | None | gnomAD-4.0.0 | 4.84287E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.72966E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.614 | likely_pathogenic | None | None | -0.755 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/D | 0.4583 | ambiguous | None | None | -0.503 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/E | 0.3563 | ambiguous | None | None | -0.667 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/F | 0.2905 | likely_benign | None | None | -0.939 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/G | 0.2603 | likely_benign | None | None | -0.243 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/H | 0.5296 | ambiguous | None | None | -0.286 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/I | 0.3285 | likely_benign | None | None | -0.387 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/K | 0.5975 | likely_pathogenic | None | None | -0.547 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/L | 0.2619 | likely_benign | None | None | -0.387 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/M | 0.3056 | likely_benign | None | None | -0.427 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/N | 0.4365 | ambiguous | None | None | -0.228 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/P | 0.8471 | likely_pathogenic | None | None | -0.305 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/Q | 0.4243 | ambiguous | None | None | -0.521 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/R | 0.4416 | ambiguous | None | None | -0.084 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/S | 0.1208 | likely_benign | None | None | -0.401 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/T | 0.121 | likely_benign | None | None | -0.491 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/V | 0.1498 | likely_benign | None | None | -0.305 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/W | 0.7745 | likely_pathogenic | None | None | -1.054 | Destabilizing | None | None | None | None | None | None | None | None | I |
| A/Y | 0.4958 | ambiguous | None | None | -0.716 | 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.