Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9475 | 28648;28649;28650 | chr2:178710674;178710673;178710672 | chr2:179575401;179575400;179575399 |
| N2AB | 9158 | 27697;27698;27699 | chr2:178710674;178710673;178710672 | chr2:179575401;179575400;179575399 |
| N2A | 8231 | 24916;24917;24918 | chr2:178710674;178710673;178710672 | chr2:179575401;179575400;179575399 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/E | None | None | 0.949 | None | 0.586 | 0.495 | 0.822125700771 | gnomAD-4.0.0 | 1.5934E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85881E-06 | 0 | 0 |
| V/G | rs1363580617  |
-0.31 | 0.901 | None | 0.566 | 0.468 | 0.864874497995 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | I | None | 1.24028E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/G | rs1363580617 |
-0.31 | 0.901 | None | 0.566 | 0.468 | 0.864874497995 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs1363580617 |
-0.31 | 0.901 | None | 0.566 | 0.468 | 0.864874497995 | gnomAD-4.0.0 | 3.84761E-06 | None | None | None | None | I | None | 5.07614E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs754971247 |
-0.016 | 0.156 | None | 0.337 | 0.166 | 0.224531998449 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | I | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs754971247 |
-0.016 | 0.156 | None | 0.337 | 0.166 | 0.224531998449 | gnomAD-4.0.0 | 3.18667E-06 | None | None | None | None | I | None | 0 | 4.57268E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1071 | likely_benign | 0.1618 | benign | -0.301 | Destabilizing | 0.034 | N | 0.307 | neutral | None | None | None | None | I |
| V/C | 0.8702 | likely_pathogenic | 0.909 | pathogenic | -0.686 | Destabilizing | 0.996 | D | 0.556 | neutral | None | None | None | None | I |
| V/D | 0.4023 | ambiguous | 0.593 | pathogenic | -0.409 | Destabilizing | 0.987 | D | 0.631 | neutral | None | None | None | None | I |
| V/E | 0.3541 | ambiguous | 0.5042 | ambiguous | -0.538 | Destabilizing | 0.949 | D | 0.586 | neutral | None | None | None | None | I |
| V/F | 0.1704 | likely_benign | 0.1908 | benign | -0.702 | Destabilizing | 0.923 | D | 0.513 | neutral | None | None | None | None | I |
| V/G | 0.2585 | likely_benign | 0.3516 | ambiguous | -0.367 | Destabilizing | 0.901 | D | 0.566 | neutral | None | None | None | None | I |
| V/H | 0.6404 | likely_pathogenic | 0.7618 | pathogenic | 0.003 | Stabilizing | 0.996 | D | 0.641 | neutral | None | None | None | None | I |
| V/I | 0.1028 | likely_benign | 0.1095 | benign | -0.278 | Destabilizing | 0.044 | N | 0.304 | neutral | None | None | None | None | I |
| V/K | 0.5259 | ambiguous | 0.7075 | pathogenic | -0.372 | Destabilizing | 0.923 | D | 0.575 | neutral | None | None | None | None | I |
| V/L | 0.3706 | ambiguous | 0.4411 | ambiguous | -0.278 | Destabilizing | 0.156 | N | 0.337 | neutral | None | None | None | None | I |
| V/M | 0.2126 | likely_benign | 0.2628 | benign | -0.457 | Destabilizing | 0.075 | N | 0.249 | neutral | None | None | None | None | I |
| V/N | 0.3401 | ambiguous | 0.4991 | ambiguous | -0.132 | Destabilizing | 0.961 | D | 0.631 | neutral | None | None | None | None | I |
| V/P | 0.8776 | likely_pathogenic | 0.9461 | pathogenic | -0.256 | Destabilizing | 0.987 | D | 0.615 | neutral | None | None | None | None | I |
| V/Q | 0.4664 | ambiguous | 0.6126 | pathogenic | -0.38 | Destabilizing | 0.961 | D | 0.617 | neutral | None | None | None | None | I |
| V/R | 0.4172 | ambiguous | 0.5875 | pathogenic | 0.115 | Stabilizing | 0.923 | D | 0.631 | neutral | None | None | None | None | I |
| V/S | 0.2092 | likely_benign | 0.3065 | benign | -0.418 | Destabilizing | 0.633 | D | 0.55 | neutral | None | None | None | None | I |
| V/T | 0.1632 | likely_benign | 0.2577 | benign | -0.456 | Destabilizing | 0.775 | D | 0.433 | neutral | None | None | None | None | I |
| V/W | 0.8276 | likely_pathogenic | 0.8657 | pathogenic | -0.77 | Destabilizing | 0.996 | D | 0.673 | neutral | None | None | None | None | I |
| V/Y | 0.5418 | ambiguous | 0.6612 | pathogenic | -0.479 | Destabilizing | 0.961 | D | 0.511 | neutral | 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.