Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6263 | 19012;19013;19014 | chr2:178729369;178729368;178729367 | chr2:179594096;179594095;179594094 |
| N2AB | 5946 | 18061;18062;18063 | chr2:178729369;178729368;178729367 | chr2:179594096;179594095;179594094 |
| N2A | 5019 | 15280;15281;15282 | chr2:178729369;178729368;178729367 | chr2:179594096;179594095;179594094 |
| 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 | rs753985729  |
None | 0.003 | N | 0.15 | 0.102 | 0.0611884634855 | gnomAD-4.0.0 | 6.843E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99572E-07 | 0 | 0 |
| P/L | None | None | 0.101 | N | 0.249 | 0.077 | 0.289098819767 | gnomAD-4.0.0 | 1.59172E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85922E-06 | 0 | 0 |
| P/S | rs753985729 |
0.116 | 0.007 | N | 0.212 | 0.083 | 0.0666544352282 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| P/S | rs753985729 |
0.116 | 0.007 | N | 0.212 | 0.083 | 0.0666544352282 | gnomAD-4.0.0 | 2.0529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69872E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0617 | likely_benign | 0.0597 | benign | -0.392 | Destabilizing | 0.003 | N | 0.15 | neutral | N | 0.418959595 | None | None | N |
| P/C | 0.3736 | ambiguous | 0.3539 | ambiguous | -0.408 | Destabilizing | 0.94 | D | 0.321 | neutral | None | None | None | None | N |
| P/D | 0.2153 | likely_benign | 0.2203 | benign | -0.353 | Destabilizing | 0.264 | N | 0.26 | neutral | None | None | None | None | N |
| P/E | 0.1743 | likely_benign | 0.1828 | benign | -0.477 | Destabilizing | 0.002 | N | 0.218 | neutral | None | None | None | None | N |
| P/F | 0.1777 | likely_benign | 0.1786 | benign | -0.755 | Destabilizing | 0.002 | N | 0.235 | neutral | None | None | None | None | N |
| P/G | 0.1832 | likely_benign | 0.1716 | benign | -0.52 | Destabilizing | 0.129 | N | 0.233 | neutral | None | None | None | None | N |
| P/H | 0.1148 | likely_benign | 0.1159 | benign | -0.191 | Destabilizing | 0.794 | D | 0.316 | neutral | N | 0.452920637 | None | None | N |
| P/I | 0.1122 | likely_benign | 0.1136 | benign | -0.207 | Destabilizing | 0.002 | N | 0.213 | neutral | None | None | None | None | N |
| P/K | 0.2165 | likely_benign | 0.2172 | benign | -0.295 | Destabilizing | 0.264 | N | 0.26 | neutral | None | None | None | None | N |
| P/L | 0.0706 | likely_benign | 0.0716 | benign | -0.207 | Destabilizing | 0.101 | N | 0.249 | neutral | N | 0.451050583 | None | None | N |
| P/M | 0.1549 | likely_benign | 0.1511 | benign | -0.168 | Destabilizing | 0.716 | D | 0.315 | neutral | None | None | None | None | N |
| P/N | 0.1468 | likely_benign | 0.143 | benign | 0.062 | Stabilizing | 0.418 | N | 0.363 | neutral | None | None | None | None | N |
| P/Q | 0.1102 | likely_benign | 0.1094 | benign | -0.209 | Destabilizing | 0.557 | D | 0.38 | neutral | None | None | None | None | N |
| P/R | 0.1502 | likely_benign | 0.1525 | benign | 0.218 | Stabilizing | 0.351 | N | 0.407 | neutral | N | 0.458939348 | None | None | N |
| P/S | 0.0745 | likely_benign | 0.0738 | benign | -0.269 | Destabilizing | 0.007 | N | 0.212 | neutral | N | 0.438777506 | None | None | N |
| P/T | 0.0688 | likely_benign | 0.0652 | benign | -0.293 | Destabilizing | 0.007 | N | 0.215 | neutral | N | 0.481066846 | None | None | N |
| P/V | 0.0968 | likely_benign | 0.0962 | benign | -0.234 | Destabilizing | 0.129 | N | 0.214 | neutral | None | None | None | None | N |
| P/W | 0.3803 | ambiguous | 0.3776 | ambiguous | -0.846 | Destabilizing | 0.983 | D | 0.332 | neutral | None | None | None | None | N |
| P/Y | 0.1995 | likely_benign | 0.199 | benign | -0.521 | Destabilizing | 0.557 | D | 0.425 | 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.