Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32683 | 98272;98273;98274 | chr2:178540119;178540118;178540117 | chr2:179404846;179404845;179404844 |
| N2AB | 31042 | 93349;93350;93351 | chr2:178540119;178540118;178540117 | chr2:179404846;179404845;179404844 |
| N2A | 30115 | 90568;90569;90570 | chr2:178540119;178540118;178540117 | chr2:179404846;179404845;179404844 |
| N2B | 23618 | 71077;71078;71079 | chr2:178540119;178540118;178540117 | chr2:179404846;179404845;179404844 |
| Novex-1 | 23743 | 71452;71453;71454 | chr2:178540119;178540118;178540117 | chr2:179404846;179404845;179404844 |
| Novex-2 | 23810 | 71653;71654;71655 | chr2:178540119;178540118;178540117 | chr2:179404846;179404845;179404844 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1693711060  |
None | 0.92 | N | 0.584 | 0.267 | 0.48748946032 | gnomAD-4.0.0 | 6.85353E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01057E-07 | 0 | 0 |
| P/R | rs1693711060 |
None | 0.988 | N | 0.656 | 0.384 | 0.376921832658 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| P/R | rs1693711060 |
None | 0.988 | N | 0.656 | 0.384 | 0.376921832658 | gnomAD-4.0.0 | 1.24124E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09938E-05 | 1.60375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0669 | likely_benign | 0.0673 | benign | -0.927 | Destabilizing | 0.061 | N | 0.333 | neutral | N | 0.404267862 | None | None | N |
| P/C | 0.3315 | likely_benign | 0.3425 | ambiguous | -0.684 | Destabilizing | 0.1 | N | 0.51 | neutral | None | None | None | None | N |
| P/D | 0.4752 | ambiguous | 0.5355 | ambiguous | -0.509 | Destabilizing | 0.969 | D | 0.6 | neutral | None | None | None | None | N |
| P/E | 0.2485 | likely_benign | 0.2804 | benign | -0.598 | Destabilizing | 0.969 | D | 0.591 | neutral | None | None | None | None | N |
| P/F | 0.3136 | likely_benign | 0.3446 | ambiguous | -0.98 | Destabilizing | 0.997 | D | 0.66 | neutral | None | None | None | None | N |
| P/G | 0.3467 | ambiguous | 0.3724 | ambiguous | -1.128 | Destabilizing | 0.884 | D | 0.577 | neutral | None | None | None | None | N |
| P/H | 0.2115 | likely_benign | 0.2414 | benign | -0.634 | Destabilizing | 0.999 | D | 0.647 | neutral | N | 0.473994519 | None | None | N |
| P/I | 0.1689 | likely_benign | 0.1688 | benign | -0.523 | Destabilizing | 0.982 | D | 0.651 | neutral | None | None | None | None | N |
| P/K | 0.2971 | likely_benign | 0.3552 | ambiguous | -0.666 | Destabilizing | 0.939 | D | 0.585 | neutral | None | None | None | None | N |
| P/L | 0.0912 | likely_benign | 0.0993 | benign | -0.523 | Destabilizing | 0.92 | D | 0.584 | neutral | N | 0.37744662 | None | None | N |
| P/M | 0.1947 | likely_benign | 0.199 | benign | -0.374 | Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | N |
| P/N | 0.338 | likely_benign | 0.3585 | ambiguous | -0.326 | Destabilizing | 0.991 | D | 0.654 | neutral | None | None | None | None | N |
| P/Q | 0.1615 | likely_benign | 0.1779 | benign | -0.593 | Destabilizing | 0.997 | D | 0.623 | neutral | None | None | None | None | N |
| P/R | 0.2043 | likely_benign | 0.2505 | benign | -0.102 | Destabilizing | 0.988 | D | 0.656 | neutral | N | 0.430107669 | None | None | N |
| P/S | 0.142 | likely_benign | 0.1482 | benign | -0.791 | Destabilizing | 0.704 | D | 0.503 | neutral | N | 0.422410905 | None | None | N |
| P/T | 0.0949 | likely_benign | 0.1004 | benign | -0.775 | Destabilizing | 0.134 | N | 0.36 | neutral | N | 0.396899172 | None | None | N |
| P/V | 0.1251 | likely_benign | 0.1236 | benign | -0.621 | Destabilizing | 0.939 | D | 0.578 | neutral | None | None | None | None | N |
| P/W | 0.5281 | ambiguous | 0.5967 | pathogenic | -1.038 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | None | None | None | None | N |
| P/Y | 0.3344 | likely_benign | 0.3795 | ambiguous | -0.756 | Destabilizing | 0.997 | D | 0.66 | 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.