Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6357 | 19294;19295;19296 | chr2:178728969;178728968;178728967 | chr2:179593696;179593695;179593694 |
| N2AB | 6040 | 18343;18344;18345 | chr2:178728969;178728968;178728967 | chr2:179593696;179593695;179593694 |
| N2A | 5113 | 15562;15563;15564 | chr2:178728969;178728968;178728967 | chr2:179593696;179593695;179593694 |
| 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/E | rs368765224  |
-0.335 | 0.061 | N | 0.314 | 0.181 | 0.149567049428 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| G/E | rs368765224 |
-0.335 | 0.061 | N | 0.314 | 0.181 | 0.149567049428 | gnomAD-4.0.0 | 1.36908E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.32056E-05 | 0 |
| G/V | rs368765224 |
0.191 | 0.002 | N | 0.2 | 0.185 | 0.276065633971 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs368765224 |
0.191 | 0.002 | N | 0.2 | 0.185 | 0.276065633971 | gnomAD-4.0.0 | 6.84541E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52525E-05 | 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 | 0.0778 | likely_benign | 0.0743 | benign | -0.218 | Destabilizing | 0.002 | N | 0.069 | neutral | N | 0.342306965 | None | None | N |
| G/C | 0.1246 | likely_benign | 0.1209 | benign | -0.667 | Destabilizing | 0.901 | D | 0.386 | neutral | None | None | None | None | N |
| G/D | 0.1028 | likely_benign | 0.0955 | benign | -0.714 | Destabilizing | 0.001 | N | 0.149 | neutral | None | None | None | None | N |
| G/E | 0.0918 | likely_benign | 0.0886 | benign | -0.887 | Destabilizing | 0.061 | N | 0.314 | neutral | N | 0.336396926 | None | None | N |
| G/F | 0.2473 | likely_benign | 0.2227 | benign | -1.054 | Destabilizing | 0.596 | D | 0.487 | neutral | None | None | None | None | N |
| G/H | 0.1353 | likely_benign | 0.1264 | benign | -0.506 | Destabilizing | 0.003 | N | 0.209 | neutral | None | None | None | None | N |
| G/I | 0.1001 | likely_benign | 0.0964 | benign | -0.392 | Destabilizing | 0.006 | N | 0.22 | neutral | None | None | None | None | N |
| G/K | 0.1221 | likely_benign | 0.117 | benign | -0.762 | Destabilizing | 0.08 | N | 0.301 | neutral | None | None | None | None | N |
| G/L | 0.1682 | likely_benign | 0.1543 | benign | -0.392 | Destabilizing | 0.036 | N | 0.268 | neutral | None | None | None | None | N |
| G/M | 0.2047 | likely_benign | 0.1881 | benign | -0.351 | Destabilizing | 0.036 | N | 0.245 | neutral | None | None | None | None | N |
| G/N | 0.13 | likely_benign | 0.1201 | benign | -0.312 | Destabilizing | 0.174 | N | 0.197 | neutral | None | None | None | None | N |
| G/P | 0.5869 | likely_pathogenic | 0.5527 | ambiguous | -0.302 | Destabilizing | 0.46 | N | 0.45 | neutral | None | None | None | None | N |
| G/Q | 0.1146 | likely_benign | 0.1085 | benign | -0.627 | Destabilizing | 0.296 | N | 0.451 | neutral | None | None | None | None | N |
| G/R | 0.0881 | likely_benign | 0.0851 | benign | -0.287 | Destabilizing | 0.001 | N | 0.186 | neutral | N | 0.416266006 | None | None | N |
| G/S | 0.0674 | likely_benign | 0.0658 | benign | -0.408 | Destabilizing | 0.002 | N | 0.047 | neutral | None | None | None | None | N |
| G/T | 0.0766 | likely_benign | 0.0739 | benign | -0.52 | Destabilizing | 0.006 | N | 0.159 | neutral | None | None | None | None | N |
| G/V | 0.0796 | likely_benign | 0.0769 | benign | -0.302 | Destabilizing | 0.002 | N | 0.2 | neutral | N | 0.427368434 | None | None | N |
| G/W | 0.1819 | likely_benign | 0.1791 | benign | -1.218 | Destabilizing | 0.972 | D | 0.366 | neutral | None | None | None | None | N |
| G/Y | 0.1825 | likely_benign | 0.1658 | benign | -0.862 | Destabilizing | 0.596 | D | 0.475 | 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.