Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30348 | 91267;91268;91269 | chr2:178551858;178551857;178551856 | chr2:179416585;179416584;179416583 |
| N2AB | 28707 | 86344;86345;86346 | chr2:178551858;178551857;178551856 | chr2:179416585;179416584;179416583 |
| N2A | 27780 | 83563;83564;83565 | chr2:178551858;178551857;178551856 | chr2:179416585;179416584;179416583 |
| N2B | 21283 | 64072;64073;64074 | chr2:178551858;178551857;178551856 | chr2:179416585;179416584;179416583 |
| Novex-1 | 21408 | 64447;64448;64449 | chr2:178551858;178551857;178551856 | chr2:179416585;179416584;179416583 |
| Novex-2 | 21475 | 64648;64649;64650 | chr2:178551858;178551857;178551856 | chr2:179416585;179416584;179416583 |
| 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/L | rs1465887824  |
-0.583 | 1.0 | D | 0.887 | 0.631 | 0.841468654952 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| P/L | rs1465887824 |
-0.583 | 1.0 | D | 0.887 | 0.631 | 0.841468654952 | gnomAD-4.0.0 | 3.18218E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88239E-05 | 0 | 2.85793E-06 | 0 | 0 |
| P/S | rs746285549 |
-1.871 | 1.0 | N | 0.823 | 0.632 | 0.427940940899 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| P/S | rs746285549 |
-1.871 | 1.0 | N | 0.823 | 0.632 | 0.427940940899 | gnomAD-4.0.0 | 6.84183E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99449E-07 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.818 | 0.701 | 0.651931416193 | gnomAD-4.0.0 | 2.05255E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69835E-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 | 0.537 | ambiguous | 0.6079 | pathogenic | -1.708 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.517805781 | None | None | N |
| P/C | 0.92 | likely_pathogenic | 0.9336 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/D | 0.9945 | likely_pathogenic | 0.9963 | pathogenic | -1.863 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/E | 0.988 | likely_pathogenic | 0.9916 | pathogenic | -1.839 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/F | 0.9959 | likely_pathogenic | 0.9975 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/G | 0.9556 | likely_pathogenic | 0.9678 | pathogenic | -2.064 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/H | 0.9781 | likely_pathogenic | 0.9852 | pathogenic | -1.722 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/I | 0.9674 | likely_pathogenic | 0.9773 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/K | 0.9945 | likely_pathogenic | 0.9964 | pathogenic | -1.525 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| P/L | 0.8771 | likely_pathogenic | 0.9109 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.541732933 | None | None | N |
| P/M | 0.972 | likely_pathogenic | 0.9799 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/N | 0.9883 | likely_pathogenic | 0.9919 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/Q | 0.9731 | likely_pathogenic | 0.9822 | pathogenic | -1.481 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.543507359 | None | None | N |
| P/R | 0.9813 | likely_pathogenic | 0.9874 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.531897564 | None | None | N |
| P/S | 0.8205 | likely_pathogenic | 0.8639 | pathogenic | -1.829 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.493852176 | None | None | N |
| P/T | 0.8253 | likely_pathogenic | 0.8771 | pathogenic | -1.696 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.531390585 | None | None | N |
| P/V | 0.8861 | likely_pathogenic | 0.9148 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/W | 0.9984 | likely_pathogenic | 0.9991 | pathogenic | -1.564 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/Y | 0.9966 | likely_pathogenic | 0.9978 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.887 | 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.