Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6159 | 18700;18701;18702 | chr2:178729778;178729777;178729776 | chr2:179594505;179594504;179594503 |
| N2AB | 5842 | 17749;17750;17751 | chr2:178729778;178729777;178729776 | chr2:179594505;179594504;179594503 |
| N2A | 4915 | 14968;14969;14970 | chr2:178729778;178729777;178729776 | chr2:179594505;179594504;179594503 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs1214856110  |
-0.261 | 0.64 | N | 0.56 | 0.449 | 0.467074840246 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 1.17924E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs1214856110 |
-0.261 | 0.64 | N | 0.56 | 0.449 | 0.467074840246 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs1214856110 |
-0.261 | 0.64 | N | 0.56 | 0.449 | 0.467074840246 | gnomAD-4.0.0 | 6.57367E-06 | None | None | None | None | N | None | 0 | 6.5505E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | None | None | 0.811 | N | 0.631 | 0.405 | 0.510346895759 | gnomAD-4.0.0 | 1.43226E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.49653E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1979 | likely_benign | 0.186 | benign | -0.315 | Destabilizing | 0.64 | D | 0.56 | neutral | N | 0.503817627 | None | None | N |
| G/C | 0.3005 | likely_benign | 0.266 | benign | -0.618 | Destabilizing | 0.125 | N | 0.629 | neutral | D | 0.528469249 | None | None | N |
| G/D | 0.1722 | likely_benign | 0.1505 | benign | -0.501 | Destabilizing | 0.811 | D | 0.631 | neutral | N | 0.507299882 | None | None | N |
| G/E | 0.2255 | likely_benign | 0.1957 | benign | -0.493 | Destabilizing | 0.976 | D | 0.647 | neutral | None | None | None | None | N |
| G/F | 0.6337 | likely_pathogenic | 0.6165 | pathogenic | -0.58 | Destabilizing | 0.996 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/H | 0.2951 | likely_benign | 0.276 | benign | -1.146 | Destabilizing | 0.997 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/I | 0.4809 | ambiguous | 0.423 | ambiguous | 0.261 | Stabilizing | 0.988 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/K | 0.3536 | ambiguous | 0.3125 | benign | -0.772 | Destabilizing | 0.976 | D | 0.651 | neutral | None | None | None | None | N |
| G/L | 0.5508 | ambiguous | 0.5427 | ambiguous | 0.261 | Stabilizing | 0.976 | D | 0.676 | prob.neutral | None | None | None | None | N |
| G/M | 0.5789 | likely_pathogenic | 0.5458 | ambiguous | 0.092 | Stabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/N | 0.1798 | likely_benign | 0.1645 | benign | -0.601 | Destabilizing | 0.076 | N | 0.387 | neutral | None | None | None | None | N |
| G/P | 0.9114 | likely_pathogenic | 0.892 | pathogenic | 0.115 | Stabilizing | 0.988 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/Q | 0.2703 | likely_benign | 0.2448 | benign | -0.614 | Destabilizing | 0.988 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/R | 0.2361 | likely_benign | 0.2113 | benign | -0.736 | Destabilizing | 0.968 | D | 0.704 | prob.neutral | N | 0.500775753 | None | None | N |
| G/S | 0.0865 | likely_benign | 0.0869 | benign | -0.949 | Destabilizing | 0.251 | N | 0.34 | neutral | N | 0.454870906 | None | None | N |
| G/T | 0.2149 | likely_benign | 0.19 | benign | -0.828 | Destabilizing | 0.851 | D | 0.645 | neutral | None | None | None | None | N |
| G/V | 0.3843 | ambiguous | 0.3374 | benign | 0.115 | Stabilizing | 0.968 | D | 0.694 | prob.neutral | N | 0.505338564 | None | None | N |
| G/W | 0.4792 | ambiguous | 0.4703 | ambiguous | -1.1 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/Y | 0.4019 | ambiguous | 0.3863 | ambiguous | -0.546 | Destabilizing | 0.996 | D | 0.715 | prob.delet. | 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.