Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23463 | 70612;70613;70614 | chr2:178575745;178575744;178575743 | chr2:179440472;179440471;179440470 |
| N2AB | 21822 | 65689;65690;65691 | chr2:178575745;178575744;178575743 | chr2:179440472;179440471;179440470 |
| N2A | 20895 | 62908;62909;62910 | chr2:178575745;178575744;178575743 | chr2:179440472;179440471;179440470 |
| N2B | 14398 | 43417;43418;43419 | chr2:178575745;178575744;178575743 | chr2:179440472;179440471;179440470 |
| Novex-1 | 14523 | 43792;43793;43794 | chr2:178575745;178575744;178575743 | chr2:179440472;179440471;179440470 |
| Novex-2 | 14590 | 43993;43994;43995 | chr2:178575745;178575744;178575743 | chr2:179440472;179440471;179440470 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs745946955  |
-0.303 | 1.0 | D | 0.733 | 0.536 | 0.404733080969 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/A | rs745946955 |
-0.303 | 1.0 | D | 0.733 | 0.536 | 0.404733080969 | gnomAD-4.0.0 | 1.59179E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8593E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9725 | likely_pathogenic | 0.9849 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.542166417 | None | None | I |
| G/C | 0.9943 | likely_pathogenic | 0.9971 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/D | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/E | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.529885058 | None | None | I |
| G/F | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/H | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/I | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/K | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/L | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/M | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/N | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/P | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/Q | 0.9992 | likely_pathogenic | 0.9996 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/R | 0.997 | likely_pathogenic | 0.9984 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.503071071 | None | None | I |
| G/S | 0.9733 | likely_pathogenic | 0.9842 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/T | 0.9971 | likely_pathogenic | 0.9981 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/V | 0.9984 | likely_pathogenic | 0.9991 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.536178935 | None | None | I |
| G/W | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Y | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
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.