Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8801 | 26626;26627;26628 | chr2:178714373;178714372;178714371 | chr2:179579100;179579099;179579098 |
| N2AB | 8484 | 25675;25676;25677 | chr2:178714373;178714372;178714371 | chr2:179579100;179579099;179579098 |
| N2A | 7557 | 22894;22895;22896 | chr2:178714373;178714372;178714371 | chr2:179579100;179579099;179579098 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs1220132171  |
-0.26 | None | N | 0.106 | 0.053 | 0.0666544352282 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs1220132171 |
-0.26 | None | N | 0.106 | 0.053 | 0.0666544352282 | gnomAD-4.0.0 | 3.18267E-06 | None | None | None | None | I | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 2.85848E-06 | 0 | 0 |
| P/L | rs778967914 |
-0.145 | None | N | 0.207 | 0.106 | 0.244539031024 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| P/L | rs778967914 |
-0.145 | None | N | 0.207 | 0.106 | 0.244539031024 | gnomAD-4.0.0 | 4.10536E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.95668E-05 | 0 |
| P/T | None | None | None | N | 0.096 | 0.062 | 0.104622674875 | gnomAD-4.0.0 | 3.18267E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86566E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0594 | likely_benign | 0.0707 | benign | -0.606 | Destabilizing | None | N | 0.106 | neutral | N | 0.444279327 | None | None | I |
| P/C | 0.4173 | ambiguous | 0.5372 | ambiguous | -0.61 | Destabilizing | 0.056 | N | 0.263 | neutral | None | None | None | None | I |
| P/D | 0.2374 | likely_benign | 0.3352 | benign | -0.603 | Destabilizing | 0.002 | N | 0.255 | neutral | None | None | None | None | I |
| P/E | 0.166 | likely_benign | 0.2165 | benign | -0.713 | Destabilizing | 0.002 | N | 0.267 | neutral | None | None | None | None | I |
| P/F | 0.2381 | likely_benign | 0.3482 | ambiguous | -0.802 | Destabilizing | 0.265 | N | 0.323 | neutral | None | None | None | None | I |
| P/G | 0.1638 | likely_benign | 0.2231 | benign | -0.755 | Destabilizing | 0.004 | N | 0.224 | neutral | None | None | None | None | I |
| P/H | 0.1369 | likely_benign | 0.1819 | benign | -0.339 | Destabilizing | 0.215 | N | 0.253 | neutral | None | None | None | None | I |
| P/I | 0.1457 | likely_benign | 0.1999 | benign | -0.357 | Destabilizing | None | N | 0.214 | neutral | None | None | None | None | I |
| P/K | 0.1501 | likely_benign | 0.2085 | benign | -0.619 | Destabilizing | 0.049 | N | 0.261 | neutral | None | None | None | None | I |
| P/L | 0.0702 | likely_benign | 0.0866 | benign | -0.357 | Destabilizing | None | N | 0.207 | neutral | N | 0.472329933 | None | None | I |
| P/M | 0.1463 | likely_benign | 0.1966 | benign | -0.376 | Destabilizing | 0.119 | N | 0.258 | neutral | None | None | None | None | I |
| P/N | 0.1594 | likely_benign | 0.2348 | benign | -0.318 | Destabilizing | 0.006 | N | 0.33 | neutral | None | None | None | None | I |
| P/Q | 0.1116 | likely_benign | 0.1476 | benign | -0.581 | Destabilizing | 0.092 | N | 0.291 | neutral | N | 0.511581754 | None | None | I |
| P/R | 0.1233 | likely_benign | 0.1631 | benign | -0.052 | Destabilizing | 0.214 | N | 0.347 | neutral | N | 0.47483152 | None | None | I |
| P/S | 0.0848 | likely_benign | 0.1131 | benign | -0.642 | Destabilizing | None | N | 0.101 | neutral | N | 0.461942368 | None | None | I |
| P/T | 0.0657 | likely_benign | 0.0861 | benign | -0.655 | Destabilizing | None | N | 0.096 | neutral | N | 0.495073506 | None | None | I |
| P/V | 0.1131 | likely_benign | 0.1444 | benign | -0.405 | Destabilizing | 0.001 | N | 0.246 | neutral | None | None | None | None | I |
| P/W | 0.4056 | ambiguous | 0.544 | ambiguous | -0.893 | Destabilizing | 0.894 | D | 0.277 | neutral | None | None | None | None | I |
| P/Y | 0.239 | likely_benign | 0.3333 | benign | -0.601 | Destabilizing | 0.423 | N | 0.285 | neutral | None | None | None | None | I |
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.