Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2647 | 8164;8165;8166 | chr2:178771388;178771387;178771386 | chr2:179636115;179636114;179636113 |
| N2AB | 2647 | 8164;8165;8166 | chr2:178771388;178771387;178771386 | chr2:179636115;179636114;179636113 |
| N2A | 2647 | 8164;8165;8166 | chr2:178771388;178771387;178771386 | chr2:179636115;179636114;179636113 |
| N2B | 2601 | 8026;8027;8028 | chr2:178771388;178771387;178771386 | chr2:179636115;179636114;179636113 |
| Novex-1 | 2601 | 8026;8027;8028 | chr2:178771388;178771387;178771386 | chr2:179636115;179636114;179636113 |
| Novex-2 | 2601 | 8026;8027;8028 | chr2:178771388;178771387;178771386 | chr2:179636115;179636114;179636113 |
| Novex-3 | 2647 | 8164;8165;8166 | chr2:178771388;178771387;178771386 | chr2:179636115;179636114;179636113 |
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/Y | rs1252111410  |
-0.087 | 0.741 | N | 0.487 | 0.342 | 0.579693371445 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/Y | rs1252111410 |
-0.087 | 0.741 | N | 0.487 | 0.342 | 0.579693371445 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs1252111410 |
-0.087 | 0.741 | N | 0.487 | 0.342 | 0.579693371445 | gnomAD-4.0.0 | 1.97176E-05 | None | None | None | None | N | None | 7.24288E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1187 | likely_benign | 0.1214 | benign | -0.036 | Destabilizing | 0.027 | N | 0.478 | neutral | N | 0.500562266 | None | None | N |
| D/C | 0.5932 | likely_pathogenic | 0.5468 | ambiguous | 0.023 | Stabilizing | 0.935 | D | 0.492 | neutral | None | None | None | None | N |
| D/E | 0.1204 | likely_benign | 0.1199 | benign | -0.235 | Destabilizing | None | N | 0.209 | neutral | N | 0.458389956 | None | None | N |
| D/F | 0.4574 | ambiguous | 0.436 | ambiguous | -0.192 | Destabilizing | 0.791 | D | 0.488 | neutral | None | None | None | None | N |
| D/G | 0.1289 | likely_benign | 0.1359 | benign | -0.145 | Destabilizing | None | N | 0.24 | neutral | N | 0.479651243 | None | None | N |
| D/H | 0.21 | likely_benign | 0.1901 | benign | 0.284 | Stabilizing | 0.484 | N | 0.447 | neutral | D | 0.591875583 | None | None | N |
| D/I | 0.2612 | likely_benign | 0.2445 | benign | 0.182 | Stabilizing | 0.38 | N | 0.486 | neutral | None | None | None | None | N |
| D/K | 0.2164 | likely_benign | 0.2086 | benign | 0.436 | Stabilizing | 0.081 | N | 0.429 | neutral | None | None | None | None | N |
| D/L | 0.248 | likely_benign | 0.2343 | benign | 0.182 | Stabilizing | 0.149 | N | 0.487 | neutral | None | None | None | None | N |
| D/M | 0.5042 | ambiguous | 0.4833 | ambiguous | 0.124 | Stabilizing | 0.935 | D | 0.478 | neutral | None | None | None | None | N |
| D/N | 0.0857 | likely_benign | 0.0833 | benign | 0.308 | Stabilizing | 0.002 | N | 0.236 | neutral | N | 0.462456593 | None | None | N |
| D/P | 0.822 | likely_pathogenic | 0.7905 | pathogenic | 0.129 | Stabilizing | 0.555 | D | 0.429 | neutral | None | None | None | None | N |
| D/Q | 0.2263 | likely_benign | 0.2125 | benign | 0.296 | Stabilizing | 0.081 | N | 0.381 | neutral | None | None | None | None | N |
| D/R | 0.2624 | likely_benign | 0.2534 | benign | 0.592 | Stabilizing | 0.235 | N | 0.467 | neutral | None | None | None | None | N |
| D/S | 0.1034 | likely_benign | 0.1012 | benign | 0.19 | Stabilizing | 0.035 | N | 0.337 | neutral | None | None | None | None | N |
| D/T | 0.178 | likely_benign | 0.1739 | benign | 0.275 | Stabilizing | 0.001 | N | 0.229 | neutral | None | None | None | None | N |
| D/V | 0.1554 | likely_benign | 0.1465 | benign | 0.129 | Stabilizing | 0.117 | N | 0.492 | neutral | N | 0.502575064 | None | None | N |
| D/W | 0.8297 | likely_pathogenic | 0.8258 | pathogenic | -0.164 | Destabilizing | 0.935 | D | 0.541 | neutral | None | None | None | None | N |
| D/Y | 0.1795 | likely_benign | 0.1711 | benign | 0.026 | Stabilizing | 0.741 | D | 0.487 | neutral | N | 0.513290443 | 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.