Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21490 | 64693;64694;64695 | chr2:178585276;178585275;178585274 | chr2:179450003;179450002;179450001 |
| N2AB | 19849 | 59770;59771;59772 | chr2:178585276;178585275;178585274 | chr2:179450003;179450002;179450001 |
| N2A | 18922 | 56989;56990;56991 | chr2:178585276;178585275;178585274 | chr2:179450003;179450002;179450001 |
| N2B | 12425 | 37498;37499;37500 | chr2:178585276;178585275;178585274 | chr2:179450003;179450002;179450001 |
| Novex-1 | 12550 | 37873;37874;37875 | chr2:178585276;178585275;178585274 | chr2:179450003;179450002;179450001 |
| Novex-2 | 12617 | 38074;38075;38076 | chr2:178585276;178585275;178585274 | chr2:179450003;179450002;179450001 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.999 | N | 0.614 | 0.579 | 0.70308399845 | gnomAD-4.0.0 | 1.59329E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0259E-05 |
| V/L | rs138858121  |
-0.792 | 0.997 | D | 0.635 | 0.498 | 0.692415691238 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11669E-04 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs138858121 |
-0.792 | 0.997 | D | 0.635 | 0.498 | 0.692415691238 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94175E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs138858121 |
-0.792 | 0.997 | D | 0.635 | 0.498 | 0.692415691238 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| V/L | rs138858121 |
-0.792 | 0.997 | D | 0.635 | 0.498 | 0.692415691238 | gnomAD-4.0.0 | 3.84789E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.85814E-05 | None | 0 | 0 | 0 | 0 | 2.84446E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6948 | likely_pathogenic | 0.6639 | pathogenic | -1.898 | Destabilizing | 0.999 | D | 0.614 | neutral | N | 0.514290143 | None | None | N |
| V/C | 0.8381 | likely_pathogenic | 0.8236 | pathogenic | -1.825 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| V/D | 0.9871 | likely_pathogenic | 0.983 | pathogenic | -2.169 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/E | 0.9641 | likely_pathogenic | 0.9565 | pathogenic | -2.059 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.610374725 | None | None | N |
| V/F | 0.4063 | ambiguous | 0.4022 | ambiguous | -1.335 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| V/G | 0.835 | likely_pathogenic | 0.8045 | pathogenic | -2.314 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.572996216 | None | None | N |
| V/H | 0.9686 | likely_pathogenic | 0.9633 | pathogenic | -1.839 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/I | 0.0746 | likely_benign | 0.0743 | benign | -0.791 | Destabilizing | 0.998 | D | 0.555 | neutral | None | None | None | None | N |
| V/K | 0.9677 | likely_pathogenic | 0.9609 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| V/L | 0.3511 | ambiguous | 0.3414 | ambiguous | -0.791 | Destabilizing | 0.997 | D | 0.635 | neutral | D | 0.560268239 | None | None | N |
| V/M | 0.3465 | ambiguous | 0.3497 | ambiguous | -0.974 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.593951756 | None | None | N |
| V/N | 0.941 | likely_pathogenic | 0.9301 | pathogenic | -1.517 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/P | 0.9811 | likely_pathogenic | 0.9713 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| V/Q | 0.9401 | likely_pathogenic | 0.9325 | pathogenic | -1.571 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/R | 0.9409 | likely_pathogenic | 0.9308 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/S | 0.8463 | likely_pathogenic | 0.8246 | pathogenic | -2.155 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| V/T | 0.6786 | likely_pathogenic | 0.6451 | pathogenic | -1.917 | Destabilizing | 0.999 | D | 0.634 | neutral | None | None | None | None | N |
| V/W | 0.9681 | likely_pathogenic | 0.9638 | pathogenic | -1.608 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| V/Y | 0.8541 | likely_pathogenic | 0.8407 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.823 | deleterious | 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.