Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3737 | 11434;11435;11436 | chr2:178756267;178756266;178756265 | chr2:179620994;179620993;179620992 |
| 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 | 3566 | 10921;10922;10923 | chr2:178756267;178756266;178756265 | chr2:179620994;179620993;179620992 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs1243794346  |
0.669 | None | None | None | 0.157 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs1243794346 |
0.669 | None | None | None | 0.157 | None | gnomAD-4.0.0 | 1.59157E-06 | None | None | None | None | I | None | 0 | 2.28634E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1048 | likely_benign | None | None | 0.008 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/C | 0.3583 | ambiguous | None | None | 0.027 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/E | 0.1108 | likely_benign | None | None | -0.179 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/F | 0.3391 | likely_benign | None | None | -0.24 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/G | 0.0978 | likely_benign | None | None | -0.08 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/H | 0.1306 | likely_benign | None | None | 0.291 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/I | 0.1852 | likely_benign | None | None | 0.169 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/K | 0.1518 | likely_benign | None | None | 0.374 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/L | 0.2164 | likely_benign | None | None | 0.169 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/M | 0.4296 | ambiguous | None | None | 0.079 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/N | 0.0806 | likely_benign | None | None | 0.416 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/P | 0.3884 | ambiguous | None | None | 0.133 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/Q | 0.1705 | likely_benign | None | None | 0.375 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/R | 0.1512 | likely_benign | None | None | 0.54 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/S | 0.0847 | likely_benign | None | None | 0.24 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/T | 0.1517 | likely_benign | None | None | 0.302 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/V | 0.1285 | likely_benign | None | None | 0.133 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/W | 0.6777 | likely_pathogenic | None | None | -0.248 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/Y | 0.1247 | likely_benign | None | None | -0.029 | 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.