Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7315 | 22168;22169;22170 | chr2:178723064;178723063;178723062 | chr2:179587791;179587790;179587789 |
| N2AB | 6998 | 21217;21218;21219 | chr2:178723064;178723063;178723062 | chr2:179587791;179587790;179587789 |
| N2A | 6071 | 18436;18437;18438 | chr2:178723064;178723063;178723062 | chr2:179587791;179587790;179587789 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/G | rs771646076  |
None | 0.996 | N | 0.539 | 0.515 | 0.537960000386 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | rs771646076 |
None | 0.996 | N | 0.539 | 0.515 | 0.537960000386 | gnomAD-4.0.0 | 2.47921E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39089E-06 | 0 | 0 |
| A/V | rs771646076 |
-0.245 | 0.998 | N | 0.647 | 0.431 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| A/V | rs771646076 |
-0.245 | 0.998 | N | 0.647 | 0.431 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs771646076 |
-0.245 | 0.998 | N | 0.647 | 0.431 | None | gnomAD-4.0.0 | 6.19802E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47723E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6661 | likely_pathogenic | 0.6583 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| A/D | 0.902 | likely_pathogenic | 0.9228 | pathogenic | -0.645 | Destabilizing | 0.999 | D | 0.88 | deleterious | D | 0.552067232 | None | None | I |
| A/E | 0.9081 | likely_pathogenic | 0.9269 | pathogenic | -0.669 | Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | I |
| A/F | 0.758 | likely_pathogenic | 0.7958 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | I |
| A/G | 0.1607 | likely_benign | 0.1855 | benign | -1.054 | Destabilizing | 0.996 | D | 0.539 | neutral | N | 0.497007225 | None | None | I |
| A/H | 0.9413 | likely_pathogenic | 0.9504 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| A/I | 0.6163 | likely_pathogenic | 0.6643 | pathogenic | -0.249 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| A/K | 0.968 | likely_pathogenic | 0.9726 | pathogenic | -0.956 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | I |
| A/L | 0.5803 | likely_pathogenic | 0.6051 | pathogenic | -0.249 | Destabilizing | 0.998 | D | 0.775 | deleterious | None | None | None | None | I |
| A/M | 0.597 | likely_pathogenic | 0.6515 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| A/N | 0.827 | likely_pathogenic | 0.8578 | pathogenic | -0.746 | Destabilizing | 0.999 | D | 0.891 | deleterious | None | None | None | None | I |
| A/P | 0.9552 | likely_pathogenic | 0.9642 | pathogenic | -0.389 | Destabilizing | 0.999 | D | 0.867 | deleterious | D | 0.533962977 | None | None | I |
| A/Q | 0.9084 | likely_pathogenic | 0.9211 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| A/R | 0.9385 | likely_pathogenic | 0.9384 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| A/S | 0.1561 | likely_benign | 0.1721 | benign | -1.194 | Destabilizing | 0.957 | D | 0.393 | neutral | N | 0.49820854 | None | None | I |
| A/T | 0.2352 | likely_benign | 0.2706 | benign | -1.101 | Destabilizing | 0.992 | D | 0.614 | neutral | N | 0.51227387 | None | None | I |
| A/V | 0.3438 | ambiguous | 0.369 | ambiguous | -0.389 | Destabilizing | 0.998 | D | 0.647 | neutral | N | 0.512256962 | None | None | I |
| A/W | 0.9757 | likely_pathogenic | 0.9798 | pathogenic | -1.196 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
| A/Y | 0.8886 | likely_pathogenic | 0.9143 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
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.