Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16595 | 50008;50009;50010 | chr2:178612938;178612937;178612936 | chr2:179477665;179477664;179477663 |
| N2AB | 14954 | 45085;45086;45087 | chr2:178612938;178612937;178612936 | chr2:179477665;179477664;179477663 |
| N2A | 14027 | 42304;42305;42306 | chr2:178612938;178612937;178612936 | chr2:179477665;179477664;179477663 |
| N2B | 7530 | 22813;22814;22815 | chr2:178612938;178612937;178612936 | chr2:179477665;179477664;179477663 |
| Novex-1 | 7655 | 23188;23189;23190 | chr2:178612938;178612937;178612936 | chr2:179477665;179477664;179477663 |
| Novex-2 | 7722 | 23389;23390;23391 | chr2:178612938;178612937;178612936 | chr2:179477665;179477664;179477663 |
| 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 | rs1235386202  |
None | 0.999 | D | 0.555 | 0.42 | 0.407082143382 | gnomAD-4.0.0 | 1.24018E-06 | None | None | None | None | N | None | 1.33454E-05 | 1.669E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | rs1235386202 |
-0.264 | 0.999 | N | 0.54 | 0.438 | 0.518092603711 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| T/R | rs1235386202 |
-0.264 | 0.999 | N | 0.54 | 0.438 | 0.518092603711 | gnomAD-4.0.0 | 3.10068E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69596E-06 | 3.2946E-05 | 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 | 0.1499 | likely_benign | 0.1512 | benign | -0.313 | Destabilizing | 0.981 | D | 0.382 | neutral | N | 0.480910899 | None | None | N |
| T/C | 0.6217 | likely_pathogenic | 0.5974 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| T/D | 0.4779 | ambiguous | 0.5394 | ambiguous | 0.171 | Stabilizing | 0.999 | D | 0.525 | neutral | None | None | None | None | N |
| T/E | 0.4159 | ambiguous | 0.488 | ambiguous | 0.086 | Stabilizing | 0.999 | D | 0.517 | neutral | None | None | None | None | N |
| T/F | 0.5187 | ambiguous | 0.5413 | ambiguous | -0.837 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| T/G | 0.3087 | likely_benign | 0.3062 | benign | -0.424 | Destabilizing | 0.997 | D | 0.444 | neutral | None | None | None | None | N |
| T/H | 0.4715 | ambiguous | 0.5078 | ambiguous | -0.715 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| T/I | 0.4501 | ambiguous | 0.4775 | ambiguous | -0.141 | Destabilizing | 0.999 | D | 0.555 | neutral | D | 0.554493 | None | None | N |
| T/K | 0.3303 | likely_benign | 0.4044 | ambiguous | -0.359 | Destabilizing | 0.999 | D | 0.527 | neutral | N | 0.478823632 | None | None | N |
| T/L | 0.2346 | likely_benign | 0.2366 | benign | -0.141 | Destabilizing | 0.998 | D | 0.439 | neutral | None | None | None | None | N |
| T/M | 0.1567 | likely_benign | 0.1641 | benign | 0.001 | Stabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| T/N | 0.1903 | likely_benign | 0.1948 | benign | -0.131 | Destabilizing | 0.999 | D | 0.552 | neutral | None | None | None | None | N |
| T/P | 0.5368 | ambiguous | 0.589 | pathogenic | -0.171 | Destabilizing | 0.999 | D | 0.549 | neutral | N | 0.484605111 | None | None | N |
| T/Q | 0.3471 | ambiguous | 0.3862 | ambiguous | -0.364 | Destabilizing | 1.0 | D | 0.577 | neutral | None | None | None | None | N |
| T/R | 0.3136 | likely_benign | 0.3901 | ambiguous | -0.091 | Destabilizing | 0.999 | D | 0.54 | neutral | N | 0.482324626 | None | None | N |
| T/S | 0.1409 | likely_benign | 0.1332 | benign | -0.332 | Destabilizing | 0.905 | D | 0.35 | neutral | N | 0.430397396 | None | None | N |
| T/V | 0.3007 | likely_benign | 0.3089 | benign | -0.171 | Destabilizing | 0.998 | D | 0.419 | neutral | None | None | None | None | N |
| T/W | 0.7824 | likely_pathogenic | 0.8161 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| T/Y | 0.5765 | likely_pathogenic | 0.6042 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.662 | 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.