Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22722 | 68389;68390;68391 | chr2:178578866;178578865;178578864 | chr2:179443593;179443592;179443591 |
| N2AB | 21081 | 63466;63467;63468 | chr2:178578866;178578865;178578864 | chr2:179443593;179443592;179443591 |
| N2A | 20154 | 60685;60686;60687 | chr2:178578866;178578865;178578864 | chr2:179443593;179443592;179443591 |
| N2B | 13657 | 41194;41195;41196 | chr2:178578866;178578865;178578864 | chr2:179443593;179443592;179443591 |
| Novex-1 | 13782 | 41569;41570;41571 | chr2:178578866;178578865;178578864 | chr2:179443593;179443592;179443591 |
| Novex-2 | 13849 | 41770;41771;41772 | chr2:178578866;178578865;178578864 | chr2:179443593;179443592;179443591 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs200493270  |
-1.35 | 0.999 | N | 0.601 | 0.535 | None | gnomAD-2.1.1 | 8.58E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.87829E-04 | 0 |
| N/S | rs200493270 |
-1.35 | 0.999 | N | 0.601 | 0.535 | None | gnomAD-3.1.2 | 9.21E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.91255E-04 | 0 | 0 |
| N/S | rs200493270 |
-1.35 | 0.999 | N | 0.601 | 0.535 | None | gnomAD-4.0.0 | 1.17777E-04 | None | None | None | None | N | None | 0 | 1.66711E-05 | None | 0 | 0 | None | 0 | 0 | 1.57705E-04 | 0 | 4.80369E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9985 | likely_pathogenic | 0.999 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| N/C | 0.9737 | likely_pathogenic | 0.9844 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| N/D | 0.9888 | likely_pathogenic | 0.9928 | pathogenic | -2.423 | Highly Destabilizing | 0.999 | D | 0.617 | neutral | D | 0.52713417 | None | None | N |
| N/E | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -2.221 | Highly Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| N/F | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| N/G | 0.9919 | likely_pathogenic | 0.9938 | pathogenic | -1.34 | Destabilizing | 0.999 | D | 0.579 | neutral | None | None | None | None | N |
| N/H | 0.9908 | likely_pathogenic | 0.9948 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.535656546 | None | None | N |
| N/I | 0.9976 | likely_pathogenic | 0.9984 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.547266341 | None | None | N |
| N/K | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.523121699 | None | None | N |
| N/L | 0.9928 | likely_pathogenic | 0.995 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| N/M | 0.9947 | likely_pathogenic | 0.9967 | pathogenic | -0.155 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| N/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| N/Q | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| N/R | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| N/S | 0.9314 | likely_pathogenic | 0.9568 | pathogenic | -1.308 | Destabilizing | 0.999 | D | 0.601 | neutral | N | 0.491886712 | None | None | N |
| N/T | 0.9801 | likely_pathogenic | 0.9867 | pathogenic | -0.962 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | N | 0.493137252 | None | None | N |
| N/V | 0.9967 | likely_pathogenic | 0.9976 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| N/W | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| N/Y | 0.995 | likely_pathogenic | 0.9967 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.535656546 | 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.