Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3718 | 11377;11378;11379 | chr2:178756324;178756323;178756322 | chr2:179621051;179621050;179621049 |
| 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 | 3547 | 10864;10865;10866 | chr2:178756324;178756323;178756322 | chr2:179621051;179621050;179621049 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs747357550  |
-1.526 | None | None | None | 0.122 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/A | rs747357550 |
-1.526 | None | None | None | 0.122 | None | gnomAD-4.0.0 | 1.59118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85817E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1114 | likely_benign | None | None | -1.059 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/C | 0.4427 | ambiguous | None | None | -0.938 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.3523 | ambiguous | None | None | -1.311 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.2429 | likely_benign | None | None | -1.187 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.259 | likely_benign | None | None | -0.786 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.36 | ambiguous | None | None | -1.422 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.1989 | likely_benign | None | None | -1.611 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.1625 | likely_benign | None | None | -0.139 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/K | 0.1806 | likely_benign | None | None | -0.814 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/L | 0.1191 | likely_benign | None | None | -0.139 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.103 | likely_benign | None | None | -0.059 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.1237 | likely_benign | None | None | -1.222 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/P | 0.5159 | ambiguous | None | None | -0.413 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Q | 0.1932 | likely_benign | None | None | -1.199 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.1299 | likely_benign | None | None | -0.801 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/S | 0.1347 | likely_benign | None | None | -1.439 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/V | 0.1672 | likely_benign | None | None | -0.413 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.5169 | ambiguous | None | None | -0.838 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.2255 | likely_benign | None | None | -0.523 | Destabilizing | None | None | None | None | 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.