Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18173 | 54742;54743;54744 | chr2:178604170;178604169;178604168 | chr2:179468897;179468896;179468895 |
| N2AB | 16532 | 49819;49820;49821 | chr2:178604170;178604169;178604168 | chr2:179468897;179468896;179468895 |
| N2A | 15605 | 47038;47039;47040 | chr2:178604170;178604169;178604168 | chr2:179468897;179468896;179468895 |
| N2B | 9108 | 27547;27548;27549 | chr2:178604170;178604169;178604168 | chr2:179468897;179468896;179468895 |
| Novex-1 | 9233 | 27922;27923;27924 | chr2:178604170;178604169;178604168 | chr2:179468897;179468896;179468895 |
| Novex-2 | 9300 | 28123;28124;28125 | chr2:178604170;178604169;178604168 | chr2:179468897;179468896;179468895 |
| 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/Q | rs794729458  |
-1.331 | 1.0 | D | 0.783 | 0.454 | 0.576674430037 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| P/Q | rs794729458 |
-1.331 | 1.0 | D | 0.783 | 0.454 | 0.576674430037 | gnomAD-3.1.2 | 5.27E-05 | None | None | None | None | N | None | 2.42E-05 | 4.59559E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/Q | rs794729458 |
-1.331 | 1.0 | D | 0.783 | 0.454 | 0.576674430037 | gnomAD-4.0.0 | 1.1167E-05 | None | None | None | None | N | None | 1.33797E-05 | 1.50331E-04 | None | 0 | 0 | None | 0 | 0 | 2.54483E-06 | 0 | 8.01693E-05 |
| P/S | rs766074604 |
-1.751 | 0.999 | N | 0.748 | 0.407 | 0.394230963961 | gnomAD-2.1.1 | 2.36557E-04 | None | None | None | None | N | None | 0 | 1.81663E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 2.81928E-04 |
| P/S | rs766074604 |
-1.751 | 0.999 | N | 0.748 | 0.407 | 0.394230963961 | gnomAD-3.1.2 | 5.27E-05 | None | None | None | None | N | None | 0 | 5.25003E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs766074604 |
-1.751 | 0.999 | N | 0.748 | 0.407 | 0.394230963961 | gnomAD-4.0.0 | 9.62894E-05 | None | None | None | None | N | None | 0 | 1.25624E-03 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.85111E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7394 | likely_pathogenic | 0.6952 | pathogenic | -2.109 | Highly Destabilizing | 0.992 | D | 0.71 | prob.delet. | N | 0.494664053 | None | None | N |
| P/C | 0.9398 | likely_pathogenic | 0.9282 | pathogenic | -1.996 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/D | 0.9985 | likely_pathogenic | 0.9981 | pathogenic | -2.896 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/E | 0.9938 | likely_pathogenic | 0.9927 | pathogenic | -2.706 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/F | 0.9947 | likely_pathogenic | 0.9937 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/G | 0.9716 | likely_pathogenic | 0.9658 | pathogenic | -2.603 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/H | 0.9963 | likely_pathogenic | 0.9948 | pathogenic | -2.268 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/I | 0.7569 | likely_pathogenic | 0.7539 | pathogenic | -0.739 | Destabilizing | 0.996 | D | 0.801 | deleterious | None | None | None | None | N |
| P/K | 0.9964 | likely_pathogenic | 0.996 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/L | 0.6 | likely_pathogenic | 0.5329 | ambiguous | -0.739 | Destabilizing | 0.995 | D | 0.787 | deleterious | N | 0.496150942 | None | None | N |
| P/M | 0.9164 | likely_pathogenic | 0.9086 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| P/N | 0.9964 | likely_pathogenic | 0.9948 | pathogenic | -1.996 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| P/Q | 0.9899 | likely_pathogenic | 0.9867 | pathogenic | -1.905 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.529911512 | None | None | N |
| P/R | 0.9915 | likely_pathogenic | 0.9892 | pathogenic | -1.466 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.529911512 | None | None | N |
| P/S | 0.9836 | likely_pathogenic | 0.9769 | pathogenic | -2.581 | Highly Destabilizing | 0.999 | D | 0.748 | deleterious | N | 0.518137133 | None | None | N |
| P/T | 0.9249 | likely_pathogenic | 0.9029 | pathogenic | -2.255 | Highly Destabilizing | 0.998 | D | 0.735 | prob.delet. | N | 0.517883643 | None | None | N |
| P/V | 0.5548 | ambiguous | 0.5361 | ambiguous | -1.169 | Destabilizing | 0.833 | D | 0.629 | neutral | None | None | None | None | N |
| P/W | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -1.733 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| P/Y | 0.9977 | likely_pathogenic | 0.9971 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.875 | 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.