Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31903 | 95932;95933;95934 | chr2:178545403;178545402;178545401 | chr2:179410130;179410129;179410128 |
| N2AB | 30262 | 91009;91010;91011 | chr2:178545403;178545402;178545401 | chr2:179410130;179410129;179410128 |
| N2A | 29335 | 88228;88229;88230 | chr2:178545403;178545402;178545401 | chr2:179410130;179410129;179410128 |
| N2B | 22838 | 68737;68738;68739 | chr2:178545403;178545402;178545401 | chr2:179410130;179410129;179410128 |
| Novex-1 | 22963 | 69112;69113;69114 | chr2:178545403;178545402;178545401 | chr2:179410130;179410129;179410128 |
| Novex-2 | 23030 | 69313;69314;69315 | chr2:178545403;178545402;178545401 | chr2:179410130;179410129;179410128 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | rs1417379558  |
-1.386 | 0.999 | N | 0.845 | 0.344 | 0.738675557602 | gnomAD-2.1.1 | 4.37E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.58E-06 | 0 |
| C/F | rs1417379558 |
-1.386 | 0.999 | N | 0.845 | 0.344 | 0.738675557602 | gnomAD-4.0.0 | 3.37457E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.08517E-06 | 0 | 0 |
| C/R | None | None | 0.999 | N | 0.831 | 0.431 | 0.803246272748 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.645 | likely_pathogenic | 0.6319 | pathogenic | -0.65 | Destabilizing | 0.995 | D | 0.599 | neutral | None | None | None | None | N |
| C/D | 0.9964 | likely_pathogenic | 0.996 | pathogenic | -1.328 | Destabilizing | 0.999 | D | 0.838 | deleterious | None | None | None | None | N |
| C/E | 0.9971 | likely_pathogenic | 0.997 | pathogenic | -1.211 | Destabilizing | 0.999 | D | 0.833 | deleterious | None | None | None | None | N |
| C/F | 0.8196 | likely_pathogenic | 0.7739 | pathogenic | -0.733 | Destabilizing | 0.999 | D | 0.845 | deleterious | N | 0.500138183 | None | None | N |
| C/G | 0.6849 | likely_pathogenic | 0.6705 | pathogenic | -0.894 | Destabilizing | 0.999 | D | 0.835 | deleterious | N | 0.480939134 | None | None | N |
| C/H | 0.9834 | likely_pathogenic | 0.9802 | pathogenic | -1.557 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| C/I | 0.7839 | likely_pathogenic | 0.8007 | pathogenic | -0.065 | Destabilizing | 0.999 | D | 0.779 | deleterious | None | None | None | None | N |
| C/K | 0.9959 | likely_pathogenic | 0.9955 | pathogenic | -0.303 | Destabilizing | 0.999 | D | 0.837 | deleterious | None | None | None | None | N |
| C/L | 0.7358 | likely_pathogenic | 0.7315 | pathogenic | -0.065 | Destabilizing | 0.998 | D | 0.699 | prob.delet. | None | None | None | None | N |
| C/M | 0.9038 | likely_pathogenic | 0.896 | pathogenic | 0.305 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| C/N | 0.9724 | likely_pathogenic | 0.9729 | pathogenic | -0.649 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| C/P | 0.969 | likely_pathogenic | 0.9688 | pathogenic | -0.233 | Destabilizing | 0.999 | D | 0.832 | deleterious | None | None | None | None | N |
| C/Q | 0.9858 | likely_pathogenic | 0.9828 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| C/R | 0.9643 | likely_pathogenic | 0.9587 | pathogenic | -0.558 | Destabilizing | 0.999 | D | 0.831 | deleterious | N | 0.463905911 | None | None | N |
| C/S | 0.7416 | likely_pathogenic | 0.7371 | pathogenic | -0.76 | Destabilizing | 0.999 | D | 0.822 | deleterious | N | 0.480419059 | None | None | N |
| C/T | 0.8536 | likely_pathogenic | 0.8618 | pathogenic | -0.497 | Destabilizing | 0.999 | D | 0.817 | deleterious | None | None | None | None | N |
| C/V | 0.6447 | likely_pathogenic | 0.6673 | pathogenic | -0.233 | Destabilizing | 0.998 | D | 0.727 | deleterious | None | None | None | None | N |
| C/W | 0.9771 | likely_pathogenic | 0.9704 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.476187269 | None | None | N |
| C/Y | 0.9414 | likely_pathogenic | 0.9275 | pathogenic | -0.745 | Destabilizing | 0.999 | D | 0.849 | deleterious | N | 0.515782426 | 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.