Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6403 | 19432;19433;19434 | chr2:178728719;178728718;178728717 | chr2:179593446;179593445;179593444 |
| N2AB | 6086 | 18481;18482;18483 | chr2:178728719;178728718;178728717 | chr2:179593446;179593445;179593444 |
| N2A | 5159 | 15700;15701;15702 | chr2:178728719;178728718;178728717 | chr2:179593446;179593445;179593444 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/N | rs764889206  |
-0.429 | 0.92 | N | 0.517 | 0.261 | 0.270447802918 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| T/N | rs764889206 |
-0.429 | 0.92 | N | 0.517 | 0.261 | 0.270447802918 | gnomAD-4.0.0 | 1.43738E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.76705E-05 | 0 | 2.01161E-05 | 0 | 0 |
| T/S | rs1466667894 |
-0.729 | 0.159 | N | 0.311 | 0.093 | 0.154104182512 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs1466667894 |
-0.729 | 0.159 | N | 0.311 | 0.093 | 0.154104182512 | gnomAD-4.0.0 | 1.59729E-06 | None | None | None | None | N | None | 0 | 2.28969E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1345 | likely_benign | 0.1181 | benign | -0.789 | Destabilizing | 0.704 | D | 0.483 | neutral | N | 0.51231526 | None | None | N |
| T/C | 0.6377 | likely_pathogenic | 0.5449 | ambiguous | -0.525 | Destabilizing | 0.999 | D | 0.559 | neutral | None | None | None | None | N |
| T/D | 0.5971 | likely_pathogenic | 0.5246 | ambiguous | -0.107 | Destabilizing | 0.939 | D | 0.504 | neutral | None | None | None | None | N |
| T/E | 0.4454 | ambiguous | 0.3944 | ambiguous | -0.069 | Destabilizing | 0.939 | D | 0.487 | neutral | None | None | None | None | N |
| T/F | 0.2439 | likely_benign | 0.2042 | benign | -0.751 | Destabilizing | 0.1 | N | 0.465 | neutral | None | None | None | None | N |
| T/G | 0.5299 | ambiguous | 0.458 | ambiguous | -1.084 | Destabilizing | 0.939 | D | 0.506 | neutral | None | None | None | None | N |
| T/H | 0.3171 | likely_benign | 0.2535 | benign | -1.286 | Destabilizing | 0.999 | D | 0.596 | neutral | None | None | None | None | N |
| T/I | 0.115 | likely_benign | 0.1085 | benign | -0.086 | Destabilizing | 0.976 | D | 0.537 | neutral | N | 0.470228425 | None | None | N |
| T/K | 0.2537 | likely_benign | 0.2235 | benign | -0.634 | Destabilizing | 0.939 | D | 0.493 | neutral | None | None | None | None | N |
| T/L | 0.0935 | likely_benign | 0.0882 | benign | -0.086 | Destabilizing | 0.884 | D | 0.487 | neutral | None | None | None | None | N |
| T/M | 0.0812 | likely_benign | 0.0771 | benign | 0.031 | Stabilizing | 0.997 | D | 0.571 | neutral | None | None | None | None | N |
| T/N | 0.1736 | likely_benign | 0.1378 | benign | -0.695 | Destabilizing | 0.92 | D | 0.517 | neutral | N | 0.470508367 | None | None | N |
| T/P | 0.4521 | ambiguous | 0.4268 | ambiguous | -0.287 | Destabilizing | 0.988 | D | 0.566 | neutral | N | 0.520074646 | None | None | N |
| T/Q | 0.2978 | likely_benign | 0.2588 | benign | -0.755 | Destabilizing | 0.991 | D | 0.574 | neutral | None | None | None | None | N |
| T/R | 0.2207 | likely_benign | 0.1882 | benign | -0.48 | Destabilizing | 0.991 | D | 0.568 | neutral | None | None | None | None | N |
| T/S | 0.1841 | likely_benign | 0.1484 | benign | -0.997 | Destabilizing | 0.159 | N | 0.311 | neutral | N | 0.487552888 | None | None | N |
| T/V | 0.1094 | likely_benign | 0.1069 | benign | -0.287 | Destabilizing | 0.939 | D | 0.504 | neutral | None | None | None | None | N |
| T/W | 0.6729 | likely_pathogenic | 0.6113 | pathogenic | -0.718 | Destabilizing | 0.999 | D | 0.618 | neutral | None | None | None | None | N |
| T/Y | 0.3201 | likely_benign | 0.2608 | benign | -0.463 | Destabilizing | 0.964 | D | 0.585 | 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.