Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31881 | 95866;95867;95868 | chr2:178545469;178545468;178545467 | chr2:179410196;179410195;179410194 |
| N2AB | 30240 | 90943;90944;90945 | chr2:178545469;178545468;178545467 | chr2:179410196;179410195;179410194 |
| N2A | 29313 | 88162;88163;88164 | chr2:178545469;178545468;178545467 | chr2:179410196;179410195;179410194 |
| N2B | 22816 | 68671;68672;68673 | chr2:178545469;178545468;178545467 | chr2:179410196;179410195;179410194 |
| Novex-1 | 22941 | 69046;69047;69048 | chr2:178545469;178545468;178545467 | chr2:179410196;179410195;179410194 |
| Novex-2 | 23008 | 69247;69248;69249 | chr2:178545469;178545468;178545467 | chr2:179410196;179410195;179410194 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/I | None | None | 1.0 | N | 0.773 | 0.529 | 0.510230903827 | 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 |
| F/L | rs1157557986  |
-2.417 | 0.999 | D | 0.654 | 0.514 | 0.625307926062 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs1157557986 |
-2.417 | 0.999 | D | 0.654 | 0.514 | 0.625307926062 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -2.566 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| F/C | 0.9832 | likely_pathogenic | 0.9857 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.561291992 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.52 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.273 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| F/G | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -3.039 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| F/H | 0.9973 | likely_pathogenic | 0.9974 | pathogenic | -2.031 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| F/I | 0.9394 | likely_pathogenic | 0.9416 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.51226501 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.371 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| F/L | 0.9928 | likely_pathogenic | 0.9933 | pathogenic | -1.01 | Destabilizing | 0.999 | D | 0.654 | neutral | D | 0.530484624 | None | None | N |
| F/M | 0.9773 | likely_pathogenic | 0.9796 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| F/N | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -3.1 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 1.0 | pathogenic | -1.544 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| F/Q | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.879 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/R | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.188 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/S | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -3.565 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.561291992 | None | None | N |
| F/T | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -3.188 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/V | 0.9489 | likely_pathogenic | 0.9557 | pathogenic | -1.544 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.501714718 | None | None | N |
| F/W | 0.9399 | likely_pathogenic | 0.9388 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| F/Y | 0.5275 | ambiguous | 0.5533 | ambiguous | -0.81 | Destabilizing | 0.999 | D | 0.569 | neutral | N | 0.489582534 | 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.