Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30459 | 91600;91601;91602 | chr2:178551156;178551155;178551154 | chr2:179415883;179415882;179415881 |
| N2AB | 28818 | 86677;86678;86679 | chr2:178551156;178551155;178551154 | chr2:179415883;179415882;179415881 |
| N2A | 27891 | 83896;83897;83898 | chr2:178551156;178551155;178551154 | chr2:179415883;179415882;179415881 |
| N2B | 21394 | 64405;64406;64407 | chr2:178551156;178551155;178551154 | chr2:179415883;179415882;179415881 |
| Novex-1 | 21519 | 64780;64781;64782 | chr2:178551156;178551155;178551154 | chr2:179415883;179415882;179415881 |
| Novex-2 | 21586 | 64981;64982;64983 | chr2:178551156;178551155;178551154 | chr2:179415883;179415882;179415881 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | None | None | 0.998 | D | 0.869 | 0.567 | 0.865305890032 | gnomAD-4.0.0 | 6.8431E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99564E-07 | 0 | 0 |
| I/T | rs1336202751  |
-3.229 | 0.961 | D | 0.617 | 0.524 | 0.720778980054 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs1336202751 |
-3.229 | 0.961 | D | 0.617 | 0.524 | 0.720778980054 | gnomAD-4.0.0 | 3.42155E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69869E-06 | 1.15942E-05 | 1.65689E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.831 | likely_pathogenic | 0.8705 | pathogenic | -3.05 | Highly Destabilizing | 0.931 | D | 0.65 | neutral | None | None | None | None | N |
| I/C | 0.9532 | likely_pathogenic | 0.9621 | pathogenic | -2.274 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| I/D | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -3.726 | Highly Destabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| I/E | 0.9974 | likely_pathogenic | 0.9977 | pathogenic | -3.394 | Highly Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| I/F | 0.8618 | likely_pathogenic | 0.8891 | pathogenic | -1.804 | Destabilizing | 0.994 | D | 0.632 | neutral | D | 0.539090041 | None | None | N |
| I/G | 0.9929 | likely_pathogenic | 0.9944 | pathogenic | -3.664 | Highly Destabilizing | 0.999 | D | 0.816 | deleterious | None | None | None | None | N |
| I/H | 0.9981 | likely_pathogenic | 0.9986 | pathogenic | -3.32 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| I/K | 0.996 | likely_pathogenic | 0.9965 | pathogenic | -2.364 | Highly Destabilizing | 0.999 | D | 0.844 | deleterious | None | None | None | None | N |
| I/L | 0.297 | likely_benign | 0.3236 | benign | -1.184 | Destabilizing | 0.689 | D | 0.299 | neutral | N | 0.50088005 | None | None | N |
| I/M | 0.3985 | ambiguous | 0.4632 | ambiguous | -1.429 | Destabilizing | 0.994 | D | 0.615 | neutral | N | 0.486334212 | None | None | N |
| I/N | 0.9932 | likely_pathogenic | 0.9942 | pathogenic | -3.111 | Highly Destabilizing | 0.998 | D | 0.869 | deleterious | D | 0.539343531 | None | None | N |
| I/P | 0.9936 | likely_pathogenic | 0.9947 | pathogenic | -1.8 | Destabilizing | 0.999 | D | 0.861 | deleterious | None | None | None | None | N |
| I/Q | 0.9961 | likely_pathogenic | 0.9966 | pathogenic | -2.739 | Highly Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | None | N |
| I/R | 0.9936 | likely_pathogenic | 0.9945 | pathogenic | -2.402 | Highly Destabilizing | 0.999 | D | 0.868 | deleterious | None | None | None | None | N |
| I/S | 0.9729 | likely_pathogenic | 0.9797 | pathogenic | -3.65 | Highly Destabilizing | 0.994 | D | 0.773 | deleterious | D | 0.539343531 | None | None | N |
| I/T | 0.8113 | likely_pathogenic | 0.8436 | pathogenic | -3.154 | Highly Destabilizing | 0.961 | D | 0.617 | neutral | D | 0.539090041 | None | None | N |
| I/V | 0.0637 | likely_benign | 0.0677 | benign | -1.8 | Destabilizing | 0.044 | N | 0.179 | neutral | N | 0.423890986 | None | None | N |
| I/W | 0.9979 | likely_pathogenic | 0.9985 | pathogenic | -2.19 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| I/Y | 0.9928 | likely_pathogenic | 0.9947 | pathogenic | -2.056 | Highly Destabilizing | 0.999 | D | 0.735 | prob.delet. | 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.