Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26154 | 78685;78686;78687 | chr2:178567672;178567671;178567670 | chr2:179432399;179432398;179432397 |
| N2AB | 24513 | 73762;73763;73764 | chr2:178567672;178567671;178567670 | chr2:179432399;179432398;179432397 |
| N2A | 23586 | 70981;70982;70983 | chr2:178567672;178567671;178567670 | chr2:179432399;179432398;179432397 |
| N2B | 17089 | 51490;51491;51492 | chr2:178567672;178567671;178567670 | chr2:179432399;179432398;179432397 |
| Novex-1 | 17214 | 51865;51866;51867 | chr2:178567672;178567671;178567670 | chr2:179432399;179432398;179432397 |
| Novex-2 | 17281 | 52066;52067;52068 | chr2:178567672;178567671;178567670 | chr2:179432399;179432398;179432397 |
| 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/I | rs745461908  |
-0.261 | 0.014 | N | 0.213 | 0.122 | 0.239901079897 | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | N | None | 0 | 8.52E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs745461908 |
-0.261 | 0.014 | N | 0.213 | 0.122 | 0.239901079897 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs745461908 |
-0.261 | 0.014 | N | 0.213 | 0.122 | 0.239901079897 | gnomAD-4.0.0 | 2.4809E-06 | None | None | None | None | N | None | 0 | 5.00768E-05 | None | 0 | 0 | None | 0 | 0 | 8.48186E-07 | 0 | 0 |
| T/P | rs1286984854 |
-0.737 | 0.99 | N | 0.496 | 0.389 | 0.372268306217 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| T/P | rs1286984854 |
-0.737 | 0.99 | N | 0.496 | 0.389 | 0.372268306217 | gnomAD-4.0.0 | 1.59459E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86467E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1107 | likely_benign | 0.1093 | benign | -0.757 | Destabilizing | 0.489 | N | 0.371 | neutral | N | 0.471293106 | None | None | N |
| T/C | 0.5032 | ambiguous | 0.4803 | ambiguous | -0.41 | Destabilizing | 0.998 | D | 0.521 | neutral | None | None | None | None | N |
| T/D | 0.6494 | likely_pathogenic | 0.601 | pathogenic | 0.114 | Stabilizing | 0.993 | D | 0.485 | neutral | None | None | None | None | N |
| T/E | 0.4416 | ambiguous | 0.3969 | ambiguous | 0.092 | Stabilizing | 0.978 | D | 0.453 | neutral | None | None | None | None | N |
| T/F | 0.384 | ambiguous | 0.3528 | ambiguous | -0.989 | Destabilizing | 0.956 | D | 0.582 | neutral | None | None | None | None | N |
| T/G | 0.3646 | ambiguous | 0.3526 | ambiguous | -0.974 | Destabilizing | 0.978 | D | 0.477 | neutral | None | None | None | None | N |
| T/H | 0.3756 | ambiguous | 0.366 | ambiguous | -1.182 | Destabilizing | 0.998 | D | 0.582 | neutral | None | None | None | None | N |
| T/I | 0.1443 | likely_benign | 0.1407 | benign | -0.281 | Destabilizing | 0.014 | N | 0.213 | neutral | N | 0.456798412 | None | None | N |
| T/K | 0.3085 | likely_benign | 0.2903 | benign | -0.559 | Destabilizing | 0.978 | D | 0.456 | neutral | None | None | None | None | N |
| T/L | 0.1081 | likely_benign | 0.1093 | benign | -0.281 | Destabilizing | 0.559 | D | 0.399 | neutral | None | None | None | None | N |
| T/M | 0.0933 | likely_benign | 0.0902 | benign | -0.088 | Destabilizing | 0.956 | D | 0.503 | neutral | None | None | None | None | N |
| T/N | 0.1762 | likely_benign | 0.1752 | benign | -0.439 | Destabilizing | 0.99 | D | 0.447 | neutral | N | 0.521636537 | None | None | N |
| T/P | 0.4149 | ambiguous | 0.4299 | ambiguous | -0.408 | Destabilizing | 0.99 | D | 0.496 | neutral | N | 0.485157853 | None | None | N |
| T/Q | 0.2839 | likely_benign | 0.2721 | benign | -0.591 | Destabilizing | 0.993 | D | 0.502 | neutral | None | None | None | None | N |
| T/R | 0.29 | likely_benign | 0.2669 | benign | -0.302 | Destabilizing | 0.978 | D | 0.501 | neutral | None | None | None | None | N |
| T/S | 0.1577 | likely_benign | 0.1499 | benign | -0.725 | Destabilizing | 0.904 | D | 0.365 | neutral | N | 0.472805227 | None | None | N |
| T/V | 0.1094 | likely_benign | 0.1055 | benign | -0.408 | Destabilizing | 0.008 | N | 0.093 | neutral | None | None | None | None | N |
| T/W | 0.7771 | likely_pathogenic | 0.7378 | pathogenic | -0.938 | Destabilizing | 0.998 | D | 0.64 | neutral | None | None | None | None | N |
| T/Y | 0.4632 | ambiguous | 0.437 | ambiguous | -0.694 | Destabilizing | 0.978 | D | 0.575 | 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.