Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21653 | 65182;65183;65184 | chr2:178584684;178584683;178584682 | chr2:179449411;179449410;179449409 |
| N2AB | 20012 | 60259;60260;60261 | chr2:178584684;178584683;178584682 | chr2:179449411;179449410;179449409 |
| N2A | 19085 | 57478;57479;57480 | chr2:178584684;178584683;178584682 | chr2:179449411;179449410;179449409 |
| N2B | 12588 | 37987;37988;37989 | chr2:178584684;178584683;178584682 | chr2:179449411;179449410;179449409 |
| Novex-1 | 12713 | 38362;38363;38364 | chr2:178584684;178584683;178584682 | chr2:179449411;179449410;179449409 |
| Novex-2 | 12780 | 38563;38564;38565 | chr2:178584684;178584683;178584682 | chr2:179449411;179449410;179449409 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs2048548013  |
None | 1.0 | N | 0.827 | 0.422 | 0.528461186488 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs2048548013 |
None | 1.0 | N | 0.827 | 0.422 | 0.528461186488 | gnomAD-4.0.0 | 1.23971E-06 | None | None | None | None | N | None | 1.33576E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47779E-07 | 0 | 0 |
| A/T | None | None | 1.0 | N | 0.819 | 0.283 | 0.440394187108 | gnomAD-4.0.0 | 6.84356E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99627E-07 | 0 | 0 |
| A/V | rs1334145229 |
-0.204 | 1.0 | N | 0.786 | 0.289 | 0.441118900842 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.93E-06 | 0 |
| A/V | rs1334145229 |
-0.204 | 1.0 | N | 0.786 | 0.289 | 0.441118900842 | gnomAD-4.0.0 | 7.52804E-06 | None | None | None | None | N | None | 2.99061E-05 | 2.23714E-05 | None | 0 | 0 | None | 0 | 0 | 6.2975E-06 | 1.15982E-05 | 1.65728E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.663 | likely_pathogenic | 0.6826 | pathogenic | -1.535 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| A/D | 0.9948 | likely_pathogenic | 0.9958 | pathogenic | -2.776 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/E | 0.9886 | likely_pathogenic | 0.9908 | pathogenic | -2.654 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.494117394 | None | None | N |
| A/F | 0.9423 | likely_pathogenic | 0.9495 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/G | 0.5464 | ambiguous | 0.5773 | pathogenic | -1.67 | Destabilizing | 1.0 | D | 0.582 | neutral | N | 0.498636845 | None | None | N |
| A/H | 0.9905 | likely_pathogenic | 0.9925 | pathogenic | -1.875 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| A/I | 0.7034 | likely_pathogenic | 0.6666 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/K | 0.9942 | likely_pathogenic | 0.9956 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| A/L | 0.6047 | likely_pathogenic | 0.6362 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/M | 0.8382 | likely_pathogenic | 0.8444 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/N | 0.9755 | likely_pathogenic | 0.9778 | pathogenic | -1.663 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/P | 0.7545 | likely_pathogenic | 0.7096 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.487280539 | None | None | N |
| A/Q | 0.9726 | likely_pathogenic | 0.9781 | pathogenic | -1.621 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| A/R | 0.9711 | likely_pathogenic | 0.9806 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/S | 0.3661 | ambiguous | 0.3743 | ambiguous | -1.989 | Destabilizing | 0.999 | D | 0.637 | neutral | N | 0.493103436 | None | None | N |
| A/T | 0.5983 | likely_pathogenic | 0.5896 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.518593445 | None | None | N |
| A/V | 0.44 | ambiguous | 0.3936 | ambiguous | -0.577 | Destabilizing | 1.0 | D | 0.786 | deleterious | N | 0.497407309 | None | None | N |
| A/W | 0.9945 | likely_pathogenic | 0.9961 | pathogenic | -1.531 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/Y | 0.9831 | likely_pathogenic | 0.9857 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.86 | 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.