Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23374 | 70345;70346;70347 | chr2:178576012;178576011;178576010 | chr2:179440739;179440738;179440737 |
| N2AB | 21733 | 65422;65423;65424 | chr2:178576012;178576011;178576010 | chr2:179440739;179440738;179440737 |
| N2A | 20806 | 62641;62642;62643 | chr2:178576012;178576011;178576010 | chr2:179440739;179440738;179440737 |
| N2B | 14309 | 43150;43151;43152 | chr2:178576012;178576011;178576010 | chr2:179440739;179440738;179440737 |
| Novex-1 | 14434 | 43525;43526;43527 | chr2:178576012;178576011;178576010 | chr2:179440739;179440738;179440737 |
| Novex-2 | 14501 | 43726;43727;43728 | chr2:178576012;178576011;178576010 | chr2:179440739;179440738;179440737 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | None | None | 1.0 | D | 0.777 | 0.691 | 0.79824111754 | gnomAD-4.0.0 | 2.05417E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70038E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6788 | likely_pathogenic | 0.7794 | pathogenic | -1.532 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.542627165 | None | None | N |
| P/C | 0.9771 | likely_pathogenic | 0.9854 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/D | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/E | 0.9955 | likely_pathogenic | 0.9974 | pathogenic | -1.377 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/F | 0.9976 | likely_pathogenic | 0.9984 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/G | 0.9819 | likely_pathogenic | 0.9888 | pathogenic | -1.827 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| P/H | 0.9942 | likely_pathogenic | 0.9964 | pathogenic | -1.447 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.555504408 | None | None | N |
| P/I | 0.9722 | likely_pathogenic | 0.9806 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/K | 0.9963 | likely_pathogenic | 0.9976 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/L | 0.9045 | likely_pathogenic | 0.9297 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.550434617 | None | None | N |
| P/M | 0.9826 | likely_pathogenic | 0.9881 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| P/N | 0.9981 | likely_pathogenic | 0.9989 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/Q | 0.9882 | likely_pathogenic | 0.9932 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/R | 0.9889 | likely_pathogenic | 0.9928 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.554997429 | None | None | N |
| P/S | 0.9613 | likely_pathogenic | 0.9789 | pathogenic | -1.485 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.55449045 | None | None | N |
| P/T | 0.9394 | likely_pathogenic | 0.9632 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.55449045 | None | None | N |
| P/V | 0.9205 | likely_pathogenic | 0.9439 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/W | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| P/Y | 0.9983 | likely_pathogenic | 0.999 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.803 | 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.