Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24830 | 74713;74714;74715 | chr2:178571644;178571643;178571642 | chr2:179436371;179436370;179436369 |
| N2AB | 23189 | 69790;69791;69792 | chr2:178571644;178571643;178571642 | chr2:179436371;179436370;179436369 |
| N2A | 22262 | 67009;67010;67011 | chr2:178571644;178571643;178571642 | chr2:179436371;179436370;179436369 |
| N2B | 15765 | 47518;47519;47520 | chr2:178571644;178571643;178571642 | chr2:179436371;179436370;179436369 |
| Novex-1 | 15890 | 47893;47894;47895 | chr2:178571644;178571643;178571642 | chr2:179436371;179436370;179436369 |
| Novex-2 | 15957 | 48094;48095;48096 | chr2:178571644;178571643;178571642 | chr2:179436371;179436370;179436369 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.861 | 0.785 | 0.870754901542 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -3.112 | Highly Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| W/C | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -2.186 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.672214425 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.54 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.406 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/F | 0.8453 | likely_pathogenic | 0.8365 | pathogenic | -2.012 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| W/G | 0.9911 | likely_pathogenic | 0.9904 | pathogenic | -3.38 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.672214425 | None | None | N |
| W/H | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -2.633 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/I | 0.9967 | likely_pathogenic | 0.9964 | pathogenic | -2.09 | Highly Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.849 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/L | 0.9912 | likely_pathogenic | 0.9907 | pathogenic | -2.09 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.645465487 | None | None | N |
| W/M | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -1.75 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.621 | Highly Destabilizing | 1.0 | D | 0.932 | deleterious | None | None | None | None | N |
| W/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.463 | Highly Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.36 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| W/R | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.72 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.672214425 | None | None | N |
| W/S | 0.9967 | likely_pathogenic | 0.9962 | pathogenic | -3.767 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | D | 0.672214425 | None | None | N |
| W/T | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -3.551 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/V | 0.9962 | likely_pathogenic | 0.9959 | pathogenic | -2.463 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| W/Y | 0.9757 | likely_pathogenic | 0.9747 | pathogenic | -1.905 | Destabilizing | 1.0 | D | 0.829 | 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.