Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6769 | 20530;20531;20532 | chr2:178726017;178726016;178726015 | chr2:179590744;179590743;179590742 |
| N2AB | 6452 | 19579;19580;19581 | chr2:178726017;178726016;178726015 | chr2:179590744;179590743;179590742 |
| N2A | 5525 | 16798;16799;16800 | chr2:178726017;178726016;178726015 | chr2:179590744;179590743;179590742 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | None | None | 0.003 | N | 0.247 | 0.101 | 0.49342883329 | gnomAD-4.0.0 | 1.76423E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.92456E-05 | 0 | 0 | 0 | 0 |
| I/V | rs1212523290  |
-0.313 | None | N | 0.044 | 0.055 | 0.28058544554 | gnomAD-2.1.1 | 9.29E-06 | None | None | None | None | N | None | 0 | 3.73E-05 | None | 0 | 0 | None | 0 | None | 0 | 9.86E-06 | 0 |
| I/V | rs1212523290 |
-0.313 | None | N | 0.044 | 0.055 | 0.28058544554 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs1212523290 |
-0.313 | None | N | 0.044 | 0.055 | 0.28058544554 | gnomAD-4.0.0 | 1.2245E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.64317E-05 | None | 0 | 0 | 1.39591E-05 | 0 | 1.67448E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.0792 | likely_benign | 0.0726 | benign | -1.109 | Destabilizing | None | N | 0.097 | neutral | None | None | None | None | N |
| I/C | 0.3609 | ambiguous | 0.3641 | ambiguous | -0.719 | Destabilizing | 0.245 | N | 0.289 | neutral | None | None | None | None | N |
| I/D | 0.2006 | likely_benign | 0.1723 | benign | -0.775 | Destabilizing | 0.037 | N | 0.365 | neutral | None | None | None | None | N |
| I/E | 0.1705 | likely_benign | 0.1512 | benign | -0.832 | Destabilizing | 0.018 | N | 0.294 | neutral | None | None | None | None | N |
| I/F | 0.1016 | likely_benign | 0.096 | benign | -0.866 | Destabilizing | 0.022 | N | 0.197 | neutral | None | None | None | None | N |
| I/G | 0.2151 | likely_benign | 0.1793 | benign | -1.347 | Destabilizing | 0.009 | N | 0.274 | neutral | None | None | None | None | N |
| I/H | 0.1907 | likely_benign | 0.1877 | benign | -0.577 | Destabilizing | 0.497 | N | 0.368 | neutral | None | None | None | None | N |
| I/K | 0.1291 | likely_benign | 0.1204 | benign | -0.838 | Destabilizing | 0.014 | N | 0.299 | neutral | N | 0.42840945 | None | None | N |
| I/L | 0.0735 | likely_benign | 0.0704 | benign | -0.569 | Destabilizing | None | N | 0.051 | neutral | N | 0.418560603 | None | None | N |
| I/M | 0.0733 | likely_benign | 0.0689 | benign | -0.497 | Destabilizing | 0.108 | N | 0.312 | neutral | N | 0.451230381 | None | None | N |
| I/N | 0.0969 | likely_benign | 0.0852 | benign | -0.59 | Destabilizing | 0.085 | N | 0.484 | neutral | None | None | None | None | N |
| I/P | 0.1596 | likely_benign | 0.1323 | benign | -0.716 | Destabilizing | None | N | 0.121 | neutral | None | None | None | None | N |
| I/Q | 0.1437 | likely_benign | 0.1301 | benign | -0.819 | Destabilizing | 0.085 | N | 0.503 | neutral | None | None | None | None | N |
| I/R | 0.0978 | likely_benign | 0.0965 | benign | -0.197 | Destabilizing | 0.033 | N | 0.465 | neutral | N | 0.423272989 | None | None | N |
| I/S | 0.0894 | likely_benign | 0.0838 | benign | -1.059 | Destabilizing | 0.009 | N | 0.262 | neutral | None | None | None | None | N |
| I/T | 0.0706 | likely_benign | 0.0684 | benign | -1.009 | Destabilizing | 0.003 | N | 0.247 | neutral | N | 0.409786404 | None | None | N |
| I/V | 0.0547 | likely_benign | 0.0538 | benign | -0.716 | Destabilizing | None | N | 0.044 | neutral | N | 0.420907474 | None | None | N |
| I/W | 0.4803 | ambiguous | 0.484 | ambiguous | -0.901 | Destabilizing | 0.788 | D | 0.354 | neutral | None | None | None | None | N |
| I/Y | 0.2602 | likely_benign | 0.2555 | benign | -0.686 | Destabilizing | 0.085 | N | 0.367 | neutral | 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.