Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32246 | 96961;96962;96963 | chr2:178543237;178543236;178543235 | chr2:179407964;179407963;179407962 |
| N2AB | 30605 | 92038;92039;92040 | chr2:178543237;178543236;178543235 | chr2:179407964;179407963;179407962 |
| N2A | 29678 | 89257;89258;89259 | chr2:178543237;178543236;178543235 | chr2:179407964;179407963;179407962 |
| N2B | 23181 | 69766;69767;69768 | chr2:178543237;178543236;178543235 | chr2:179407964;179407963;179407962 |
| Novex-1 | 23306 | 70141;70142;70143 | chr2:178543237;178543236;178543235 | chr2:179407964;179407963;179407962 |
| Novex-2 | 23373 | 70342;70343;70344 | chr2:178543237;178543236;178543235 | chr2:179407964;179407963;179407962 |
| 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/I | None | None | 0.998 | N | 0.483 | 0.397 | 0.429552544315 | gnomAD-4.0.0 | 2.05258E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69838E-06 | 0 | 0 |
| T/K | rs1300990720  |
None | 0.997 | N | 0.467 | 0.384 | 0.363158594168 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93498E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | rs1300990720 |
None | 0.997 | N | 0.467 | 0.384 | 0.363158594168 | gnomAD-4.0.0 | 6.58181E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93498E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | rs1300990720 |
-0.081 | 0.998 | N | 0.473 | 0.382 | 0.413503789086 | 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/R | rs1300990720 |
-0.081 | 0.998 | N | 0.473 | 0.382 | 0.413503789086 | gnomAD-4.0.0 | 4.10516E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.4973E-06 | 1.15934E-05 | 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 | 0.1195 | likely_benign | 0.1142 | benign | -0.236 | Destabilizing | 0.948 | D | 0.364 | neutral | N | 0.475263955 | None | None | N |
| T/C | 0.5603 | ambiguous | 0.5536 | ambiguous | -0.15 | Destabilizing | 1.0 | D | 0.528 | neutral | None | None | None | None | N |
| T/D | 0.5368 | ambiguous | 0.54 | ambiguous | 0.049 | Stabilizing | 0.998 | D | 0.463 | neutral | None | None | None | None | N |
| T/E | 0.4162 | ambiguous | 0.4062 | ambiguous | -0.04 | Destabilizing | 0.998 | D | 0.471 | neutral | None | None | None | None | N |
| T/F | 0.4042 | ambiguous | 0.3848 | ambiguous | -0.787 | Destabilizing | 1.0 | D | 0.571 | neutral | None | None | None | None | N |
| T/G | 0.2467 | likely_benign | 0.2418 | benign | -0.342 | Destabilizing | 0.992 | D | 0.435 | neutral | None | None | None | None | N |
| T/H | 0.4058 | ambiguous | 0.3947 | ambiguous | -0.632 | Destabilizing | 1.0 | D | 0.581 | neutral | None | None | None | None | N |
| T/I | 0.3954 | ambiguous | 0.3601 | ambiguous | -0.078 | Destabilizing | 0.998 | D | 0.483 | neutral | N | 0.479265142 | None | None | N |
| T/K | 0.3199 | likely_benign | 0.308 | benign | -0.326 | Destabilizing | 0.997 | D | 0.467 | neutral | N | 0.485422234 | None | None | N |
| T/L | 0.1575 | likely_benign | 0.1486 | benign | -0.078 | Destabilizing | 0.996 | D | 0.419 | neutral | None | None | None | None | N |
| T/M | 0.1145 | likely_benign | 0.1048 | benign | 0.077 | Stabilizing | 1.0 | D | 0.506 | neutral | None | None | None | None | N |
| T/N | 0.1699 | likely_benign | 0.1626 | benign | -0.036 | Destabilizing | 0.998 | D | 0.433 | neutral | None | None | None | None | N |
| T/P | 0.4065 | ambiguous | 0.3856 | ambiguous | -0.103 | Destabilizing | 0.998 | D | 0.479 | neutral | N | 0.511974117 | None | None | N |
| T/Q | 0.2786 | likely_benign | 0.2715 | benign | -0.283 | Destabilizing | 0.999 | D | 0.474 | neutral | None | None | None | None | N |
| T/R | 0.2877 | likely_benign | 0.2813 | benign | -0.038 | Destabilizing | 0.998 | D | 0.473 | neutral | N | 0.487115745 | None | None | N |
| T/S | 0.1143 | likely_benign | 0.1111 | benign | -0.211 | Destabilizing | 0.775 | D | 0.221 | neutral | N | 0.377963908 | None | None | N |
| T/V | 0.2523 | likely_benign | 0.2373 | benign | -0.103 | Destabilizing | 0.996 | D | 0.362 | neutral | None | None | None | None | N |
| T/W | 0.6913 | likely_pathogenic | 0.6857 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| T/Y | 0.4458 | ambiguous | 0.456 | ambiguous | -0.536 | Destabilizing | 1.0 | D | 0.578 | 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.