Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7751 | 23476;23477;23478 | chr2:178720511;178720510;178720509 | chr2:179585238;179585237;179585236 |
| N2AB | 7434 | 22525;22526;22527 | chr2:178720511;178720510;178720509 | chr2:179585238;179585237;179585236 |
| N2A | 6507 | 19744;19745;19746 | chr2:178720511;178720510;178720509 | chr2:179585238;179585237;179585236 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs763821900  |
-0.751 | 0.409 | D | 0.4 | 0.164 | 0.264547087235 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 1.65948E-04 |
| T/A | rs763821900 |
-0.751 | 0.409 | D | 0.4 | 0.164 | 0.264547087235 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93125E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs763821900 |
-0.751 | 0.409 | D | 0.4 | 0.164 | 0.264547087235 | gnomAD-4.0.0 | 3.09875E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.45831E-05 | None | 0 | 0 | 1.69537E-06 | 0 | 1.60143E-05 |
| T/I | None | None | 0.626 | N | 0.565 | 0.23 | 0.385906861911 | gnomAD-4.0.0 | 3.42143E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73611E-04 | 0 | 3.4785E-05 | 1.65711E-05 |
| T/N | rs1276891291 |
-0.35 | 0.77 | N | 0.484 | 0.228 | 0.378674557249 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| T/N | rs1276891291 |
-0.35 | 0.77 | N | 0.484 | 0.228 | 0.378674557249 | gnomAD-4.0.0 | 1.36857E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.74602E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1014 | likely_benign | 0.104 | benign | -0.734 | Destabilizing | 0.409 | N | 0.4 | neutral | D | 0.524901421 | None | None | N |
| T/C | 0.5135 | ambiguous | 0.5191 | ambiguous | -0.276 | Destabilizing | 0.997 | D | 0.628 | neutral | None | None | None | None | N |
| T/D | 0.4796 | ambiguous | 0.5272 | ambiguous | -0.513 | Destabilizing | 0.94 | D | 0.574 | neutral | None | None | None | None | N |
| T/E | 0.439 | ambiguous | 0.4761 | ambiguous | -0.538 | Destabilizing | 0.816 | D | 0.555 | neutral | None | None | None | None | N |
| T/F | 0.2134 | likely_benign | 0.2236 | benign | -0.942 | Destabilizing | 0.94 | D | 0.713 | prob.delet. | None | None | None | None | N |
| T/G | 0.3347 | likely_benign | 0.3606 | ambiguous | -0.966 | Destabilizing | 0.69 | D | 0.579 | neutral | None | None | None | None | N |
| T/H | 0.2637 | likely_benign | 0.2804 | benign | -1.347 | Destabilizing | 0.997 | D | 0.695 | prob.neutral | None | None | None | None | N |
| T/I | 0.1534 | likely_benign | 0.1612 | benign | -0.21 | Destabilizing | 0.626 | D | 0.565 | neutral | N | 0.499525761 | None | None | N |
| T/K | 0.3518 | ambiguous | 0.3839 | ambiguous | -0.735 | Destabilizing | 0.816 | D | 0.556 | neutral | None | None | None | None | N |
| T/L | 0.1125 | likely_benign | 0.1174 | benign | -0.21 | Destabilizing | 0.014 | N | 0.282 | neutral | None | None | None | None | N |
| T/M | 0.1016 | likely_benign | 0.0992 | benign | 0.303 | Stabilizing | 0.94 | D | 0.636 | neutral | None | None | None | None | N |
| T/N | 0.1398 | likely_benign | 0.1485 | benign | -0.597 | Destabilizing | 0.77 | D | 0.484 | neutral | N | 0.489557578 | None | None | N |
| T/P | 0.5433 | ambiguous | 0.5949 | pathogenic | -0.354 | Destabilizing | 0.96 | D | 0.638 | neutral | N | 0.497724333 | None | None | N |
| T/Q | 0.2908 | likely_benign | 0.3108 | benign | -0.841 | Destabilizing | 0.969 | D | 0.65 | neutral | None | None | None | None | N |
| T/R | 0.2605 | likely_benign | 0.2841 | benign | -0.445 | Destabilizing | 0.94 | D | 0.642 | neutral | None | None | None | None | N |
| T/S | 0.1077 | likely_benign | 0.1128 | benign | -0.805 | Destabilizing | 0.043 | N | 0.198 | neutral | N | 0.439802666 | None | None | N |
| T/V | 0.1405 | likely_benign | 0.1486 | benign | -0.354 | Destabilizing | 0.69 | D | 0.465 | neutral | None | None | None | None | N |
| T/W | 0.6154 | likely_pathogenic | 0.632 | pathogenic | -0.899 | Destabilizing | 0.997 | D | 0.733 | prob.delet. | None | None | None | None | N |
| T/Y | 0.2787 | likely_benign | 0.2852 | benign | -0.663 | Destabilizing | 0.99 | D | 0.711 | 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.