Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6355 | 19288;19289;19290 | chr2:178728975;178728974;178728973 | chr2:179593702;179593701;179593700 |
| N2AB | 6038 | 18337;18338;18339 | chr2:178728975;178728974;178728973 | chr2:179593702;179593701;179593700 |
| N2A | 5111 | 15556;15557;15558 | chr2:178728975;178728974;178728973 | chr2:179593702;179593701;179593700 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs188878341  |
-0.111 | 0.984 | N | 0.54 | 0.38 | 0.379020345274 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| D/H | rs188878341 |
-0.111 | 0.984 | N | 0.54 | 0.38 | 0.379020345274 | gnomAD-4.0.0 | 1.36905E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.32024E-05 | 0 |
| D/Y | rs188878341 |
0.059 | 0.995 | N | 0.642 | 0.428 | None | gnomAD-2.1.1 | 2.15361E-04 | None | None | None | None | N | None | 2.19498E-03 | 1.70542E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.41523E-04 |
| D/Y | rs188878341 |
0.059 | 0.995 | N | 0.642 | 0.428 | None | gnomAD-3.1.2 | 6.31114E-04 | None | None | None | None | N | None | 2.07589E-03 | 5.89237E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| D/Y | rs188878341 |
0.059 | 0.995 | N | 0.642 | 0.428 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| D/Y | rs188878341 |
0.059 | 0.995 | N | 0.642 | 0.428 | None | gnomAD-4.0.0 | 1.33284E-04 | None | None | None | None | N | None | 2.54694E-03 | 2.67005E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.28144E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1244 | likely_benign | 0.1166 | benign | -0.418 | Destabilizing | 0.896 | D | 0.471 | neutral | N | 0.437050363 | None | None | N |
| D/C | 0.4827 | ambiguous | 0.4332 | ambiguous | -0.075 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| D/E | 0.1204 | likely_benign | 0.1121 | benign | -0.596 | Destabilizing | 0.011 | N | 0.121 | neutral | N | 0.372286808 | None | None | N |
| D/F | 0.4249 | ambiguous | 0.3902 | ambiguous | -0.171 | Destabilizing | 0.996 | D | 0.639 | neutral | None | None | None | None | N |
| D/G | 0.1083 | likely_benign | 0.1005 | benign | -0.715 | Destabilizing | 0.946 | D | 0.429 | neutral | N | 0.449768944 | None | None | N |
| D/H | 0.1823 | likely_benign | 0.1675 | benign | -0.339 | Destabilizing | 0.984 | D | 0.54 | neutral | N | 0.488633976 | None | None | N |
| D/I | 0.2621 | likely_benign | 0.2359 | benign | 0.342 | Stabilizing | 0.988 | D | 0.634 | neutral | None | None | None | None | N |
| D/K | 0.2144 | likely_benign | 0.1876 | benign | -0.131 | Destabilizing | 0.851 | D | 0.43 | neutral | None | None | None | None | N |
| D/L | 0.2639 | likely_benign | 0.2356 | benign | 0.342 | Stabilizing | 0.976 | D | 0.539 | neutral | None | None | None | None | N |
| D/M | 0.4641 | ambiguous | 0.4218 | ambiguous | 0.674 | Stabilizing | 0.999 | D | 0.626 | neutral | None | None | None | None | N |
| D/N | 0.0804 | likely_benign | 0.0762 | benign | -0.526 | Destabilizing | 0.896 | D | 0.483 | neutral | N | 0.468834707 | None | None | N |
| D/P | 0.7458 | likely_pathogenic | 0.7232 | pathogenic | 0.113 | Stabilizing | 0.988 | D | 0.495 | neutral | None | None | None | None | N |
| D/Q | 0.1993 | likely_benign | 0.1789 | benign | -0.42 | Destabilizing | 0.507 | D | 0.23 | neutral | None | None | None | None | N |
| D/R | 0.235 | likely_benign | 0.209 | benign | 0.049 | Stabilizing | 0.976 | D | 0.511 | neutral | None | None | None | None | N |
| D/S | 0.0908 | likely_benign | 0.0855 | benign | -0.686 | Destabilizing | 0.919 | D | 0.389 | neutral | None | None | None | None | N |
| D/T | 0.1708 | likely_benign | 0.1568 | benign | -0.451 | Destabilizing | 0.919 | D | 0.474 | neutral | None | None | None | None | N |
| D/V | 0.1651 | likely_benign | 0.1555 | benign | 0.113 | Stabilizing | 0.984 | D | 0.539 | neutral | N | 0.459812579 | None | None | N |
| D/W | 0.7717 | likely_pathogenic | 0.7436 | pathogenic | -0.018 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| D/Y | 0.1817 | likely_benign | 0.1679 | benign | 0.059 | Stabilizing | 0.995 | D | 0.642 | neutral | N | 0.494194512 | 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.