Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25969 | 78130;78131;78132 | chr2:178568227;178568226;178568225 | chr2:179432954;179432953;179432952 |
| N2AB | 24328 | 73207;73208;73209 | chr2:178568227;178568226;178568225 | chr2:179432954;179432953;179432952 |
| N2A | 23401 | 70426;70427;70428 | chr2:178568227;178568226;178568225 | chr2:179432954;179432953;179432952 |
| N2B | 16904 | 50935;50936;50937 | chr2:178568227;178568226;178568225 | chr2:179432954;179432953;179432952 |
| Novex-1 | 17029 | 51310;51311;51312 | chr2:178568227;178568226;178568225 | chr2:179432954;179432953;179432952 |
| Novex-2 | 17096 | 51511;51512;51513 | chr2:178568227;178568226;178568225 | chr2:179432954;179432953;179432952 |
| 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 | rs1307235516  |
-1.481 | 0.999 | D | 0.587 | 0.652 | 0.354183961838 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| N/S | rs1307235516 |
-1.481 | 0.999 | D | 0.587 | 0.652 | 0.354183961838 | gnomAD-4.0.0 | 3.18339E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85941E-06 | 1.43279E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.999 | likely_pathogenic | 0.999 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| N/C | 0.9796 | likely_pathogenic | 0.9819 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| N/D | 0.994 | likely_pathogenic | 0.9931 | pathogenic | -2.199 | Highly Destabilizing | 0.999 | D | 0.609 | neutral | D | 0.529438348 | None | None | N |
| N/E | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -2.014 | Highly Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| N/F | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| N/G | 0.9938 | likely_pathogenic | 0.9939 | pathogenic | -1.127 | Destabilizing | 0.999 | D | 0.563 | neutral | None | None | None | None | N |
| N/H | 0.9928 | likely_pathogenic | 0.9916 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.563142097 | None | None | N |
| N/I | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | 0.026 | Stabilizing | 1.0 | D | 0.794 | deleterious | D | 0.563395587 | None | None | N |
| N/K | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.562128139 | None | None | N |
| N/L | 0.9949 | likely_pathogenic | 0.9942 | pathogenic | 0.026 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| N/M | 0.9966 | likely_pathogenic | 0.9964 | pathogenic | 0.232 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| N/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| N/Q | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| N/R | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| N/S | 0.9468 | likely_pathogenic | 0.9498 | pathogenic | -1.104 | Destabilizing | 0.999 | D | 0.587 | neutral | D | 0.524309786 | None | None | N |
| N/T | 0.985 | likely_pathogenic | 0.9858 | pathogenic | -0.762 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | N | 0.504164389 | None | None | N |
| N/V | 0.9972 | likely_pathogenic | 0.9972 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| N/Y | 0.9966 | likely_pathogenic | 0.9955 | pathogenic | -0.27 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.551785792 | 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.