Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19064 | 57415;57416;57417 | chr2:178597980;178597979;178597978 | chr2:179462707;179462706;179462705 |
| N2AB | 17423 | 52492;52493;52494 | chr2:178597980;178597979;178597978 | chr2:179462707;179462706;179462705 |
| N2A | 16496 | 49711;49712;49713 | chr2:178597980;178597979;178597978 | chr2:179462707;179462706;179462705 |
| N2B | 9999 | 30220;30221;30222 | chr2:178597980;178597979;178597978 | chr2:179462707;179462706;179462705 |
| Novex-1 | 10124 | 30595;30596;30597 | chr2:178597980;178597979;178597978 | chr2:179462707;179462706;179462705 |
| Novex-2 | 10191 | 30796;30797;30798 | chr2:178597980;178597979;178597978 | chr2:179462707;179462706;179462705 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/T | rs114405804  |
-1.594 | None | N | None | 0.424 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | rs114405804 |
-1.594 | None | N | None | 0.424 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| R/T | rs114405804 |
-1.594 | None | N | None | 0.424 | None | gnomAD-4.0.0 | 6.57091E-06 | None | None | None | None | N | None | 2.4072E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4589 | ambiguous | 0.4947 | ambiguous | -1.419 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.1177 | likely_benign | 0.1357 | benign | -1.428 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/D | 0.8878 | likely_pathogenic | 0.9094 | pathogenic | -0.564 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.5619 | ambiguous | 0.6032 | pathogenic | -0.364 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.5214 | ambiguous | 0.5571 | ambiguous | -0.707 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.4389 | ambiguous | 0.4767 | ambiguous | -1.796 | Destabilizing | None | None | None | None | N | 0.513644135 | None | None | N |
| R/H | 0.1411 | likely_benign | 0.149 | benign | -1.761 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/I | 0.2797 | likely_benign | 0.3418 | ambiguous | -0.353 | Destabilizing | None | None | None | None | N | 0.473325302 | None | None | N |
| R/K | 0.1209 | likely_benign | 0.135 | benign | -1.268 | Destabilizing | None | None | None | None | N | 0.474266665 | None | None | N |
| R/L | 0.2617 | likely_benign | 0.3191 | benign | -0.353 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/M | 0.2593 | likely_benign | 0.2883 | benign | -0.819 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/N | 0.7138 | likely_pathogenic | 0.7597 | pathogenic | -1.056 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.9837 | likely_pathogenic | 0.9881 | pathogenic | -0.692 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Q | 0.13 | likely_benign | 0.1397 | benign | -0.967 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/S | 0.4826 | ambiguous | 0.497 | ambiguous | -1.889 | Destabilizing | None | N | 0.243 | neutral | N | 0.451949952 | None | None | N |
| R/T | 0.2553 | likely_benign | 0.2918 | benign | -1.473 | Destabilizing | None | None | None | None | N | 0.49822096 | None | None | N |
| R/V | 0.3544 | ambiguous | 0.4458 | ambiguous | -0.692 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.2237 | likely_benign | 0.2451 | benign | -0.249 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Y | 0.407 | ambiguous | 0.4427 | ambiguous | -0.051 | 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.