Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13763 | 41512;41513;41514 | chr2:178636440;178636439;178636438 | chr2:179501167;179501166;179501165 |
| N2AB | 12122 | 36589;36590;36591 | chr2:178636440;178636439;178636438 | chr2:179501167;179501166;179501165 |
| N2A | 11195 | 33808;33809;33810 | chr2:178636440;178636439;178636438 | chr2:179501167;179501166;179501165 |
| N2B | 4698 | 14317;14318;14319 | chr2:178636440;178636439;178636438 | chr2:179501167;179501166;179501165 |
| Novex-1 | 4823 | 14692;14693;14694 | chr2:178636440;178636439;178636438 | chr2:179501167;179501166;179501165 |
| Novex-2 | 4890 | 14893;14894;14895 | chr2:178636440;178636439;178636438 | chr2:179501167;179501166;179501165 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs768683479  |
-0.818 | 0.999 | N | 0.841 | 0.438 | 0.680007063485 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| G/R | rs768683479 |
-0.818 | 0.999 | N | 0.841 | 0.438 | 0.680007063485 | gnomAD-4.0.0 | 2.05568E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.7011E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.674 | likely_pathogenic | 0.7366 | pathogenic | -0.182 | Destabilizing | 0.767 | D | 0.437 | neutral | N | 0.483018176 | None | None | N |
| G/C | 0.9411 | likely_pathogenic | 0.953 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/D | 0.9204 | likely_pathogenic | 0.9554 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/E | 0.9641 | likely_pathogenic | 0.9795 | pathogenic | -0.75 | Destabilizing | 0.999 | D | 0.831 | deleterious | N | 0.477502939 | None | None | N |
| G/F | 0.9878 | likely_pathogenic | 0.99 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/H | 0.9726 | likely_pathogenic | 0.9832 | pathogenic | -0.324 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/I | 0.9859 | likely_pathogenic | 0.9895 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/K | 0.9849 | likely_pathogenic | 0.9908 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/L | 0.965 | likely_pathogenic | 0.9749 | pathogenic | -0.371 | Destabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | N |
| G/M | 0.9844 | likely_pathogenic | 0.989 | pathogenic | -0.628 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/N | 0.8601 | likely_pathogenic | 0.9158 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/P | 0.9885 | likely_pathogenic | 0.9905 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/Q | 0.9467 | likely_pathogenic | 0.9638 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/R | 0.9654 | likely_pathogenic | 0.9769 | pathogenic | -0.331 | Destabilizing | 0.999 | D | 0.841 | deleterious | N | 0.508275299 | None | None | N |
| G/S | 0.5938 | likely_pathogenic | 0.6819 | pathogenic | -0.514 | Destabilizing | 0.994 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/T | 0.9467 | likely_pathogenic | 0.9611 | pathogenic | -0.596 | Destabilizing | 0.999 | D | 0.818 | deleterious | None | None | None | None | N |
| G/V | 0.9674 | likely_pathogenic | 0.9769 | pathogenic | -0.28 | Destabilizing | 0.999 | D | 0.813 | deleterious | N | 0.511407629 | None | None | N |
| G/W | 0.9829 | likely_pathogenic | 0.9858 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| G/Y | 0.9813 | likely_pathogenic | 0.986 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.847 | 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.