Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6776 | 20551;20552;20553 | chr2:178725996;178725995;178725994 | chr2:179590723;179590722;179590721 |
| N2AB | 6459 | 19600;19601;19602 | chr2:178725996;178725995;178725994 | chr2:179590723;179590722;179590721 |
| N2A | 5532 | 16819;16820;16821 | chr2:178725996;178725995;178725994 | chr2:179590723;179590722;179590721 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs886055295  |
None | None | N | 0.12 | 0.11 | 0.0551355673512 | gnomAD-4.0.0 | 4.83792E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.53021E-06 | 0 | 3.34706E-05 |
| A/V | rs200031306 |
-0.672 | None | N | 0.193 | 0.12 | 0.329540904979 | gnomAD-2.1.1 | 1.67E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.65E-05 | 0 |
| A/V | rs200031306 |
-0.672 | None | N | 0.193 | 0.12 | 0.329540904979 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/V | rs200031306 |
-0.672 | None | N | 0.193 | 0.12 | 0.329540904979 | gnomAD-4.0.0 | 2.8147E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.84086E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3634 | ambiguous | 0.3307 | benign | -0.926 | Destabilizing | 0.247 | N | 0.405 | neutral | None | None | None | None | N |
| A/D | 0.2172 | likely_benign | 0.1958 | benign | -1.488 | Destabilizing | 0.014 | N | 0.377 | neutral | N | 0.435978501 | None | None | N |
| A/E | 0.1885 | likely_benign | 0.1713 | benign | -1.597 | Destabilizing | 0.026 | N | 0.373 | neutral | None | None | None | None | N |
| A/F | 0.2949 | likely_benign | 0.2552 | benign | -1.31 | Destabilizing | 0.551 | D | 0.497 | neutral | None | None | None | None | N |
| A/G | 0.1237 | likely_benign | 0.1117 | benign | -1.083 | Destabilizing | 0.001 | N | 0.277 | neutral | N | 0.462703743 | None | None | N |
| A/H | 0.3445 | ambiguous | 0.3069 | benign | -1.172 | Destabilizing | 0.789 | D | 0.455 | neutral | None | None | None | None | N |
| A/I | 0.1921 | likely_benign | 0.1627 | benign | -0.67 | Destabilizing | 0.034 | N | 0.377 | neutral | None | None | None | None | N |
| A/K | 0.28 | likely_benign | 0.2421 | benign | -1.243 | Destabilizing | 0.001 | N | 0.196 | neutral | None | None | None | None | N |
| A/L | 0.1468 | likely_benign | 0.1223 | benign | -0.67 | Destabilizing | 0.015 | N | 0.341 | neutral | None | None | None | None | N |
| A/M | 0.1478 | likely_benign | 0.1251 | benign | -0.431 | Destabilizing | 0.551 | D | 0.434 | neutral | None | None | None | None | N |
| A/N | 0.1666 | likely_benign | 0.1344 | benign | -0.897 | Destabilizing | 0.005 | N | 0.391 | neutral | None | None | None | None | N |
| A/P | 0.5364 | ambiguous | 0.5126 | ambiguous | -0.718 | Destabilizing | 0.066 | N | 0.433 | neutral | D | 0.54093524 | None | None | N |
| A/Q | 0.236 | likely_benign | 0.2077 | benign | -1.212 | Destabilizing | 0.147 | N | 0.44 | neutral | None | None | None | None | N |
| A/R | 0.2433 | likely_benign | 0.2247 | benign | -0.708 | Destabilizing | 0.08 | N | 0.405 | neutral | None | None | None | None | N |
| A/S | 0.0743 | likely_benign | 0.0693 | benign | -1.111 | Destabilizing | None | N | 0.111 | neutral | N | 0.380933295 | None | None | N |
| A/T | 0.0633 | likely_benign | 0.0592 | benign | -1.152 | Destabilizing | None | N | 0.12 | neutral | N | 0.442829903 | None | None | N |
| A/V | 0.1075 | likely_benign | 0.0967 | benign | -0.718 | Destabilizing | None | N | 0.193 | neutral | N | 0.46316789 | None | None | N |
| A/W | 0.6245 | likely_pathogenic | 0.6014 | pathogenic | -1.509 | Destabilizing | 0.934 | D | 0.461 | neutral | None | None | None | None | N |
| A/Y | 0.3608 | ambiguous | 0.3246 | benign | -1.179 | Destabilizing | 0.551 | D | 0.475 | 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.